Linked Data
ClinVar Variation Id:
14533
ClinVar RCV Id:
RCV000015632
dbSNP Id:
rs121912490
gnomAD v4:
3-49130334-A-T
PubMed:
PMID:16097004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130334A>T , CM000665.2:g.49130334A>T | GRCh38 |
| NC_000003.11:g.49167767A>T , CM000665.1:g.49167767A>T | GRCh37 |
| NC_000003.10:g.49142771A>T | NCBI36 |
| NG_008094.1:g.7833T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.1122T>A MANE Select | ENSP00000307156.4:p.Cys374Ter | |
| ENST00000305544.8:c.1122T>A | ENSP00000307156.4:p.Cys374Ter | |
| ENST00000418109.5:c.1122T>A | ENSP00000388325.1:p.Cys374Ter | |
| NM_002292.3:c.1122T>A | NP_002283.3:p.Cys374Ter | |
| XM_005265127.3:c.1122T>A | XP_005265184.1:p.Cys374Ter | |
| XM_005265127.4:c.1122T>A | XP_005265184.1:p.Cys374Ter | |
| NM_002292.4:c.1122T>A MANE Select | NP_002283.3:p.Cys374Ter |