Linked Data
ClinVar Variation Id:
38880
ClinVar RCV Id:
RCV000032129
dbSNP Id:
rs202247822
ExAC:
3:136048804 T / C
gnomAD v2:
3-136048804-T-C
gnomAD v3:
3-136329962-T-C
gnomAD v4:
3-136329962-T-C
PubMed:
PMID:22593918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136329962T>C , CM000665.2:g.136329962T>C | GRCh38 |
| NC_000003.11:g.136048804T>C , CM000665.1:g.136048804T>C | GRCh37 |
| NC_000003.10:g.137531494T>C | NCBI36 |
| NG_008939.1:g.84638T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1556T>C MANE Select | ENSP00000251654.4:p.Leu519Pro | |
| ENST00000251654.8:c.1556T>C | ENSP00000251654.4:p.Leu519Pro | |
| ENST00000462637.5:c.1487T>C | ENSP00000420391.1:p.Leu496Pro | |
| ENST00000466072.5:c.1616T>C | ENSP00000420158.1:p.Leu539Pro | |
| ENST00000468777.5:c.1649T>C | ENSP00000419129.1:p.Leu550Pro | |
| ENST00000469217.5:c.1616T>C | ENSP00000419027.1:p.Leu539Pro | |
| ENST00000471595.5:c.1556T>C | ENSP00000417549.1:p.Leu519Pro | |
| ENST00000473073.1:n.1757T>C | ||
| ENST00000478469.5:c.885-4318T>C | ENSP00000420759.1:n.885-4318T>C | |
| ENST00000482086.5:c.1208T>C | ENSP00000417253.1:p.Leu403Pro | |
| ENST00000483687.5:c.1499T>C | ENSP00000420639.1:p.Leu500Pro | |
| ENST00000484181.5:c.*237T>C | ENSP00000417937.1:n.*237T>C | |
| ENST00000490504.5:c.1385T>C | ENSP00000418307.1:p.Leu462Pro | |
| NM_000532.4:c.1556T>C | NP_000523.2:p.Leu519Pro | |
| NM_001178014.1:c.1616T>C | NP_001171485.1:p.Leu539Pro | |
| NM_000532.5:c.1556T>C MANE Select | NP_000523.2:p.Leu519Pro | |
| NM_001178014.2:c.1616T>C | NP_001171485.1:p.Leu539Pro |