UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
40563
ClinVar RCV Id:
RCV000033550
RCV000055887
RCV000154371
RCV000157683
RCV001731476
RCV001849289
RCV002390133
RCV003944866
dbSNP Id:
rs397507548
COSMIC:
COSM1658770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489093A>C , CM000674.2:g.112489093A>C | GRCh38 |
| NC_000012.11:g.112926897A>C , CM000674.1:g.112926897A>C | GRCh37 |
| NC_000012.10:g.111411280A>C | NCBI36 |
| NG_007459.1:g.75362A>C , LRG_614:g.75362A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639857.2:c.1517A>C | ENSP00000491593.2:p.Gln506Pro | |
| ENST00000685487.1:c.1517A>C | ENSP00000508503.1:p.Gln506Pro | |
| ENST00000687624.1:n.182A>C | ||
| ENST00000687906.1:c.1403A>C | ENSP00000509536.1:p.Gln468Pro | |
| ENST00000688597.1:c.1224+6888A>C | ENSP00000510628.1:n.1224+6888A>C | |
| ENST00000688701.1:n.761A>C | ||
| ENST00000690210.1:c.1517A>C | ENSP00000509272.1:p.Gln506Pro | |
| ENST00000690472.1:n.726A>C | ||
| ENST00000692624.1:c.*63A>C | ENSP00000508953.1:n.*63A>C | |
| ENST00000351677.7:c.1517A>C MANE Select | ENSP00000340944.3:p.Gln506Pro | |
| ENST00000351677.6:c.1517A>C | ENSP00000340944.2:p.Gln506Pro | |
| ENST00000635625.1:c.1529A>C | ENSP00000489597.1:p.Gln510Pro | |
| ENST00000635652.1:c.530A>C | ENSP00000489541.1:p.Gln177Pro | |
| NM_002834.3:c.1517A>C , LRG_614t1:c.1517A>C | NP_002825.3:p.Gln506Pro | |
| XM_006719526.1:c.1529A>C | XP_006719589.1:p.Gln510Pro | |
| XM_006719527.1:c.1415A>C | XP_006719590.1:p.Gln472Pro | |
| XM_011538613.1:c.1526A>C | XP_011536915.1:p.Gln509Pro | |
| NM_001330437.1:c.1529A>C | NP_001317366.1:p.Gln510Pro | |
| NM_002834.4:c.1517A>C | NP_002825.3:p.Gln506Pro | |
| XM_011538613.2:c.1526A>C | XP_011536915.1:p.Gln509Pro | |
| XM_017019722.1:c.1514A>C | XP_016875211.1:p.Gln505Pro | |
| NM_001330437.2:c.1529A>C | NP_001317366.1:p.Gln510Pro | |
| NM_001374625.1:c.1514A>C | NP_001361554.1:p.Gln505Pro | |
| NM_002834.5:c.1517A>C MANE Select | NP_002825.3:p.Gln506Pro |