Linked Data
ClinVar Variation Id:
102902
dbSNP Id:
rs62642912
gnomAD v2:
12-103240705-C-T
gnomAD v3:
12-102846927-C-T
gnomAD v4:
12-102846927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846927C>T , CM000674.2:g.102846927C>T | GRCh38 |
| NC_000012.11:g.103240705C>T , CM000674.1:g.103240705C>T | GRCh37 |
| NC_000012.10:g.101764835C>T | NCBI36 |
| NG_008690.1:g.75676G>A | |
| NG_008690.2:g.116484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.937G>A MANE Select | ENSP00000448059.1:p.Ala313Thr | |
| ENST00000307000.7:c.922G>A | ENSP00000303500.2:p.Ala308Thr | |
| ENST00000549247.6:n.696G>A | ||
| ENST00000551114.2:n.599G>A | ||
| ENST00000553106.5:c.937G>A | ENSP00000448059.1:p.Ala313Thr | |
| ENST00000635477.1:c.74-2496G>A | ||
| ENST00000635528.1:n.452G>A | ||
| NM_000277.1:c.937G>A | NP_000268.1:p.Ala313Thr | |
| XM_011538422.1:c.913-2496G>A | XP_011536724.1:n.913-2496G>A | |
| NM_000277.2:c.937G>A | NP_000268.1:p.Ala313Thr | |
| NM_001354304.1:c.937G>A | NP_001341233.1:p.Ala313Thr | |
| NM_000277.3:c.937G>A MANE Select | NP_000268.1:p.Ala313Thr | |
| NM_001354304.2:c.937G>A | NP_001341233.1:p.Ala313Thr |