Linked Data
ClinVar Variation Id:
17883
ClinVar RCV Id:
RCV000019472
dbSNP Id:
rs121918383
gnomAD v4:
2-21013379-G-A
PubMed:
PMID:2843815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21013379G>A , CM000664.2:g.21013379G>A | GRCh38 |
| NC_000002.11:g.21236251G>A , CM000664.1:g.21236251G>A | GRCh37 |
| NC_000002.10:g.21089756G>A | NCBI36 |
| NG_011793.1:g.35695C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*3303C>T | ENSP00000501110.2:n.*3303C>T | |
| ENST00000673882.2:c.*3092C>T | ENSP00000501253.2:n.*3092C>T | |
| ENST00000673739.1:c.3711C>T | ENSP00000501110.1:n.3711C>T | |
| ENST00000673882.1:c.3500C>T | ENSP00000501253.1:n.3500C>T | |
| ENST00000233242.5:c.3997C>T MANE Select | ENSP00000233242.1:p.Arg1333Ter | |
| ENST00000616098.4:c.3997C>T | ENSP00000477990.1:p.Arg1333Ter | |
| NM_000384.2:c.3997C>T | NP_000375.2:p.Arg1333Ter | |
| XM_011532809.1:c.3997C>T | XP_011531111.1:p.Arg1333Ter | |
| NM_000384.3:c.3997C>T MANE Select | NP_000375.3:p.Arg1333Ter |