WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
861845
ClinVar RCV Id:
RCV002445354
dbSNP Id:
rs876659676
gnomAD v3:
1-45332252-T-G
gnomAD v4:
1-45332252-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332252T>G , CM000663.2:g.45332252T>G | GRCh38 |
| NC_000001.10:g.45797924T>G , CM000663.1:g.45797924T>G | GRCh37 |
| NC_000001.9:g.45570511T>G | NCBI36 |
| NG_008189.1:g.13219A>C , LRG_220:g.13219A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.379A>C | ENSP00000410263.2:p.Met127Leu | |
| ENST00000435155.2:c.796A>C | ENSP00000403655.2:p.Met266Leu | |
| ENST00000467459.6:c.763A>C | ENSP00000435889.2:p.Met255Leu | |
| ENST00000483127.2:c.781A>C | ENSP00000436469.2:p.Met261Leu | |
| ENST00000485271.6:c.763A>C | ENSP00000431264.2:p.Met255Leu | |
| ENST00000529892.6:c.805A>C | ENSP00000432528.2:p.Met269Leu | |
| ENST00000533178.6:c.*92A>C | ENSP00000436430.2:n.*92A>C | |
| ENST00000672314.2:c.763A>C | ENSP00000500828.2:p.Met255Leu | |
| ENST00000674679.2:c.*675A>C | ENSP00000501623.2:n.*675A>C | |
| ENST00000710952.2:c.847A>C MANE Plus Clinical | ENSP00000518552.2:p.Met283Leu | |
| ENST00000672818.3:c.838A>C | ENSP00000500891.1:p.Met280Leu | |
| ENST00000450313.6:c.*92A>C | ENSP00000408176.2:n.*92A>C | |
| ENST00000456914.7:c.763A>C MANE Select | ENSP00000407590.2:p.Met255Leu | |
| ENST00000461495.6:c.*502A>C | ENSP00000437166.1:n.*502A>C | |
| ENST00000671898.1:c.1351A>C | ENSP00000499896.1:p.Met451Leu | |
| ENST00000672011.1:c.*92A>C | ENSP00000500418.1:n.*92A>C | |
| ENST00000672314.1:c.763A>C | ENSP00000500828.1:p.Met255Leu | |
| ENST00000672593.1:c.*816A>C | ENSP00000500455.1:n.*816A>C | |
| ENST00000672764.1:c.*92A>C | ENSP00000500886.1:n.*92A>C | |
| ENST00000672818.2:c.838A>C | ENSP00000500891.1:p.Met280Leu | |
| ENST00000673134.1:c.*460A>C | ENSP00000500526.1:n.*460A>C | |
| ENST00000674679.1:c.791A>C | ENSP00000501623.1:n.791A>C | |
| ENST00000354383.10:c.766A>C | ENSP00000346354.6:p.Met256Leu | |
| ENST00000355498.6:c.763A>C | ENSP00000347685.2:p.Met255Leu | |
| ENST00000372098.7:c.838A>C | ENSP00000361170.3:p.Met280Leu | |
| ENST00000372104.5:c.763A>C | ENSP00000361176.1:p.Met255Leu | |
| ENST00000372110.7:c.808A>C | ENSP00000361182.3:p.Met270Leu | |
| ENST00000372115.7:c.805A>C | ENSP00000361187.3:p.Met269Leu | |
| ENST00000412971.5:c.379A>C | ENSP00000410263.1:p.Met127Leu | |
| ENST00000435155.1:c.796A>C | ENSP00000403655.1:p.Met266Leu | |
| ENST00000448481.5:c.796A>C | ENSP00000409718.1:p.Met266Leu | |
| ENST00000450313.5:c.847A>C | ENSP00000408176.1:p.Met283Leu | |
| ENST00000456914.6:c.763A>C | ENSP00000407590.2:p.Met255Leu | |
| ENST00000461495.5:c.*502A>C | ENSP00000437166.1:n.*502A>C | |
| ENST00000462388.5:n.454A>C | ||
| ENST00000466231.1:n.128A>C | ||
| ENST00000467459.5:c.157A>C | ENSP00000435889.1:p.Met53Leu | |
| ENST00000467940.5:c.*686A>C | ENSP00000436478.1:n.*686A>C | |
| ENST00000470256.5:c.*92A>C | ENSP00000434985.1:n.*92A>C | |
| ENST00000475516.5:c.*576A>C | ENSP00000433843.1:n.*576A>C | |
| ENST00000478796.5:n.750A>C | ||
| ENST00000481571.5:c.*576A>C | ENSP00000436597.1:n.*576A>C | |
| ENST00000488731.6:c.187+511A>C | ENSP00000432330.1:n.187+511A>C | |
| ENST00000528013.6:c.805A>C | ENSP00000433130.2:p.Met269Leu | |
| ENST00000529892.5:c.27A>C | ||
| ENST00000529984.5:c.187+511A>C | ENSP00000437093.1:n.187+511A>C | |
| ENST00000531105.5:c.115+2139A>C | ENSP00000431292.1:n.115+2139A>C | |
| ENST00000533178.5:c.392A>C | ENSP00000436430.1:n.392A>C | |
| NM_001048171.1:c.805A>C | NP_001041636.1:p.Met269Leu | |
| NM_001048172.1:c.766A>C | NP_001041637.1:p.Met256Leu | |
| NM_001048173.1:c.763A>C | NP_001041638.1:p.Met255Leu | |
| NM_001048174.1:c.763A>C | NP_001041639.1:p.Met255Leu | |
| NM_001128425.1:c.847A>C , LRG_220t1:c.847A>C | NP_001121897.1:p.Met283Leu | |
| NM_001293190.1:c.808A>C | NP_001280119.1:p.Met270Leu | |
| NM_001293191.1:c.796A>C | NP_001280120.1:p.Met266Leu | |
| NM_001293192.1:c.487A>C | NP_001280121.1:p.Met163Leu | |
| NM_001293195.1:c.763A>C | NP_001280124.1:p.Met255Leu | |
| NM_001293196.1:c.487A>C | NP_001280125.1:p.Met163Leu | |
| NM_012222.2:c.838A>C | NP_036354.1:p.Met280Leu | |
| XM_011541497.1:c.823A>C | XP_011539799.1:p.Met275Leu | |
| XM_011541498.1:c.805A>C | XP_011539800.1:p.Met269Leu | |
| XM_011541499.1:c.805A>C | XP_011539801.1:p.Met269Leu | |
| XM_011541500.1:c.805A>C | XP_011539802.1:p.Met269Leu | |
| XM_011541501.1:c.805A>C | XP_011539803.1:p.Met269Leu | |
| XM_011541502.1:c.805A>C | XP_011539804.1:p.Met269Leu | |
| XM_011541503.1:c.805A>C | XP_011539805.1:p.Met269Leu | |
| XM_011541504.1:c.796A>C | XP_011539806.1:p.Met266Leu | |
| XM_011541505.1:c.385A>C | XP_011539807.1:p.Met129Leu | |
| XM_011541506.1:c.385A>C | XP_011539808.1:p.Met129Leu | |
| XM_011541507.1:c.376A>C | XP_011539809.1:p.Met126Leu | |
| XM_011541508.1:c.391A>C | XP_011539810.1:p.Met131Leu | |
| XR_946658.1:n.894A>C | ||
| NM_001350650.1:c.418A>C | NP_001337579.1:p.Met140Leu | |
| NM_001350651.1:c.418A>C | NP_001337580.1:p.Met140Leu | |
| NR_146882.1:n.1021A>C | ||
| NR_146883.1:n.835A>C | ||
| XM_011541497.3:c.823A>C | XP_011539799.1:p.Met275Leu | |
| XM_011541500.3:c.805A>C | XP_011539802.1:p.Met269Leu | |
| XM_011541501.2:c.805A>C | XP_011539803.1:p.Met269Leu | |
| XM_011541502.2:c.805A>C | XP_011539804.1:p.Met269Leu | |
| XM_011541503.2:c.805A>C | XP_011539805.1:p.Met269Leu | |
| XM_011541504.2:c.796A>C | XP_011539806.1:p.Met266Leu | |
| XM_011541505.2:c.385A>C | XP_011539807.1:p.Met129Leu | |
| XM_011541506.2:c.385A>C | XP_011539808.1:p.Met129Leu | |
| XM_017001331.1:c.805A>C | XP_016856820.1:p.Met269Leu | |
| XM_017001332.1:c.805A>C | XP_016856821.1:p.Met269Leu | |
| XM_017001333.1:c.805A>C | XP_016856822.1:p.Met269Leu | |
| XM_017001334.1:c.766A>C | XP_016856823.1:p.Met256Leu | |
| XM_017001335.1:c.487A>C | XP_016856824.1:p.Met163Leu | |
| XM_017001336.1:c.418A>C | XP_016856825.1:p.Met140Leu | |
| XM_017001337.1:c.418A>C | XP_016856826.1:p.Met140Leu | |
| XM_024447244.1:c.418A>C | XP_024303012.1:p.Met140Leu | |
| XM_024447245.1:c.418A>C | XP_024303013.1:p.Met140Leu | |
| XM_024447248.1:c.376A>C | XP_024303016.1:p.Met126Leu | |
| XM_024447249.1:c.247A>C | XP_024303017.1:p.Met83Leu | |
| XM_024447250.1:c.247A>C | XP_024303018.1:p.Met83Leu | |
| XM_024447251.1:c.247A>C | XP_024303019.1:p.Met83Leu | |
| XR_001737190.1:n.808A>C | ||
| XR_001737192.1:n.620A>C | ||
| XR_002956643.1:n.800A>C | ||
| XR_002956644.1:n.1335A>C | ||
| XR_946658.2:n.908A>C | ||
| NM_001048171.2:c.763A>C | NP_001041636.2:p.Met255Leu | |
| NM_001128425.2:c.847A>C MANE Plus Clinical | NP_001121897.1:p.Met283Leu | |
| NM_001048172.2:c.766A>C | NP_001041637.1:p.Met256Leu | |
| NM_001048173.2:c.763A>C | NP_001041638.1:p.Met255Leu | |
| NM_001048174.2:c.763A>C MANE Select | NP_001041639.1:p.Met255Leu | |
| NM_001293190.2:c.808A>C | NP_001280119.1:p.Met270Leu | |
| NM_001293191.2:c.796A>C | NP_001280120.1:p.Met266Leu | |
| NM_001293192.2:c.487A>C | NP_001280121.1:p.Met163Leu | |
| NM_001293195.2:c.763A>C | NP_001280124.1:p.Met255Leu | |
| NM_001293196.2:c.487A>C | NP_001280125.1:p.Met163Leu | |
| NM_001350650.2:c.418A>C | NP_001337579.1:p.Met140Leu | |
| NM_001350651.2:c.418A>C | NP_001337580.1:p.Met140Leu | |
| NM_012222.3:c.838A>C | NP_036354.1:p.Met280Leu | |
| NR_146882.2:n.991A>C | ||
| NR_146883.2:n.840A>C |