Linked Data
ClinVar Variation Id:
217893
ClinVar RCV Id:
RCV000235647
dbSNP Id:
rs749908889
ExAC:
3:136048788 C / T
gnomAD v2:
3-136048788-C-T
gnomAD v3:
3-136329946-C-T
gnomAD v4:
3-136329946-C-T
COSMIC:
COSM1581387
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136329946C>T , CM000665.2:g.136329946C>T | GRCh38 |
| NC_000003.11:g.136048788C>T , CM000665.1:g.136048788C>T | GRCh37 |
| NC_000003.10:g.137531478C>T | NCBI36 |
| NG_008939.1:g.84622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.1540C>T MANE Select | ENSP00000251654.4:p.Arg514Ter | |
| ENST00000251654.8:c.1540C>T | ENSP00000251654.4:p.Arg514Ter | |
| ENST00000462637.5:c.1471C>T | ENSP00000420391.1:p.Arg491Ter | |
| ENST00000466072.5:c.1600C>T | ENSP00000420158.1:p.Arg534Ter | |
| ENST00000468777.5:c.1633C>T | ENSP00000419129.1:p.Arg545Ter | |
| ENST00000469217.5:c.1600C>T | ENSP00000419027.1:p.Arg534Ter | |
| ENST00000471595.5:c.1540C>T | ENSP00000417549.1:p.Arg514Ter | |
| ENST00000473073.1:n.1741C>T | ||
| ENST00000478469.5:c.885-4334C>T | ENSP00000420759.1:n.885-4334C>T | |
| ENST00000482086.5:c.1192C>T | ENSP00000417253.1:p.Arg398Ter | |
| ENST00000483687.5:c.1483C>T | ENSP00000420639.1:p.Arg495Ter | |
| ENST00000484181.5:c.*221C>T | ENSP00000417937.1:n.*221C>T | |
| ENST00000490504.5:c.1369C>T | ENSP00000418307.1:p.Arg457Ter | |
| NM_000532.4:c.1540C>T | NP_000523.2:p.Arg514Ter | |
| NM_001178014.1:c.1600C>T | NP_001171485.1:p.Arg534Ter | |
| NM_000532.5:c.1540C>T MANE Select | NP_000523.2:p.Arg514Ter | |
| NM_001178014.2:c.1600C>T | NP_001171485.1:p.Arg534Ter |