Linked Data
ClinVar Variation Id:
944647
ClinVar RCV Id:
RCV001215093
RCV001814283
RCV001838656
RCV003446653
RCV003446654
RCV003446655
RCV003446656
dbSNP Id:
rs1017082606
gnomAD v2:
1-43396302-C-T
gnomAD v3:
1-42930631-C-T
gnomAD v4:
1-42930631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930631C>T , CM000663.2:g.42930631C>T | GRCh38 |
| NC_000001.10:g.43396302C>T , CM000663.1:g.43396302C>T | GRCh37 |
| NC_000001.9:g.43168889C>T | NCBI36 |
| NG_008232.1:g.33546G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.511G>A MANE Select | ENSP00000416293.2:p.Ala171Thr | |
| ENST00000674765.1:c.511G>A | ENSP00000501811.1:p.Ala171Thr | |
| ENST00000675112.1:n.534G>A | ||
| ENST00000676254.1:n.960G>A | ||
| ENST00000426263.7:c.511G>A | ENSP00000416293.2:p.Ala171Thr | |
| ENST00000439722.2:c.390G>A | ENSP00000395521.2:n.390G>A | |
| ENST00000475162.3:c.410G>A | ||
| ENST00000625233.2:n.719G>A | ||
| ENST00000630287.2:c.511G>A | ENSP00000486694.1:p.Ala171Thr | |
| NM_006516.2:c.511G>A | NP_006507.2:p.Ala171Thr | |
| NM_006516.3:c.511G>A | NP_006507.2:p.Ala171Thr | |
| NM_006516.4:c.511G>A MANE Select | NP_006507.2:p.Ala171Thr |