Linked Data
ClinVar Variation Id:
951860
ClinVar RCV Id:
RCV001223859
RCV003446661
RCV003446662
RCV003446659
RCV003236879
RCV003446663
RCV003446660
dbSNP Id:
rs1040371265
gnomAD v2:
1-43394686-C-T
gnomAD v3:
1-42929015-C-T
gnomAD v4:
1-42929015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929015C>T , CM000663.2:g.42929015C>T | GRCh38 |
| NC_000001.10:g.43394686C>T , CM000663.1:g.43394686C>T | GRCh37 |
| NC_000001.9:g.43167273C>T | NCBI36 |
| NG_008232.1:g.35162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.991G>A MANE Select | ENSP00000416293.2:p.Ala331Thr | |
| ENST00000674545.1:n.485G>A | ||
| ENST00000674765.1:c.991G>A | ENSP00000501811.1:p.Ala331Thr | |
| ENST00000675112.1:n.1292G>A | ||
| ENST00000676254.1:n.1440G>A | ||
| ENST00000426263.7:c.991G>A | ENSP00000416293.2:p.Ala331Thr | |
| ENST00000475162.3:c.415+1611G>A | ||
| ENST00000630287.2:c.*306G>A | ENSP00000486694.1:n.*306G>A | |
| NM_006516.2:c.991G>A | NP_006507.2:p.Ala331Thr | |
| NM_006516.3:c.991G>A | NP_006507.2:p.Ala331Thr | |
| NM_006516.4:c.991G>A MANE Select | NP_006507.2:p.Ala331Thr |