Linked Data
ClinVar Variation Id:
392924
dbSNP Id:
rs781518112
ExAC:
1:227169827 T / C
gnomAD v2:
1-227169827-T-C
gnomAD v4:
1-226982126-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226982126T>C , CM000663.2:g.226982126T>C | GRCh38 |
| NC_000001.10:g.227169827T>C , CM000663.1:g.227169827T>C | GRCh37 |
| NC_000001.9:g.225236450T>C | NCBI36 |
| NG_012825.1:g.46890T>C | |
| NG_012825.2:g.89591T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.830T>C MANE Select | ENSP00000355739.3:p.Leu277Pro | |
| ENST00000366779.6:c.*5557T>C | ENSP00000355741.2:n.*5557T>C | |
| ENST00000676884.1:c.*5679T>C | ENSP00000503200.1:n.*5679T>C | |
| ENST00000366777.3:c.830T>C | ENSP00000355739.3:p.Leu277Pro | |
| ENST00000366778.5:c.674T>C | ENSP00000355740.1:p.Leu225Pro | |
| ENST00000366779.5:c.830T>C | ENSP00000355741.1:p.Leu277Pro | |
| ENST00000478406.5:n.281T>C | ||
| ENST00000485462.5:n.220T>C | ||
| NM_020247.4:c.830T>C | NP_064632.2:p.Leu277Pro | |
| XM_005273201.1:c.830T>C | XP_005273258.1:p.Leu277Pro | |
| XM_011544238.1:c.830T>C | XP_011542540.1:p.Leu277Pro | |
| XM_011544239.1:c.830T>C | XP_011542541.1:p.Leu277Pro | |
| XM_011544240.1:c.830T>C | XP_011542542.1:p.Leu277Pro | |
| XM_011544241.1:c.830T>C | XP_011542543.1:p.Leu277Pro | |
| XM_011544239.2:c.830T>C | XP_011542541.1:p.Leu277Pro | |
| XM_011544241.2:c.830T>C | XP_011542543.1:p.Leu277Pro | |
| XM_017001852.1:c.830T>C | XP_016857341.1:p.Leu277Pro | |
| XM_024448517.1:c.830T>C | XP_024304285.1:p.Leu277Pro | |
| XM_024448518.1:c.830T>C | XP_024304286.1:p.Leu277Pro | |
| NM_020247.5:c.830T>C MANE Select | NP_064632.2:p.Leu277Pro |