Linked Data
ClinVar Variation Id:
1249578
ClinVar RCV Id:
RCV001657099
dbSNP Id:
rs162431
gnomAD v2:
17-42030175-G-T
gnomAD v3:
17-43952807-G-T
gnomAD v4:
17-43952807-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43952807G>T , CM000679.2:g.43952807G>T | GRCh38 |
| NC_000017.10:g.42030175G>T , CM000679.1:g.42030175G>T | GRCh37 |
| NC_000017.9:g.39385701G>T | NCBI36 |
| NG_023338.1:g.56663C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592796.2:c.*298C>A | ENSP00000467310.1:n.*298C>A | |
| ENST00000692052.1:c.*149C>A MANE Select | ENSP00000509262.1:n.*149C>A | |
| ENST00000360085.6:c.*149C>A | ENSP00000353198.1:n.*149C>A | |
| NM_004160.4:c.*149C>A | NP_004151.3:n.*149C>A | |
| XM_011525035.1:c.*149C>A | XP_011523337.1:n.*149C>A | |
| NM_004160.5:c.*149C>A | NP_004151.3:n.*149C>A | |
| NM_001394028.1:c.*149C>A MANE Select | NP_001380957.1:n.*149C>A | |
| NM_001394029.1:c.*298C>A | NP_001380958.1:n.*298C>A | |
| NM_004160.6:c.*149C>A | NP_004151.4:n.*149C>A |