Linked Data
dbSNP Id:
rs62642912
ExAC:
12:103240705 C / A
gnomAD v2:
12-103240705-C-A
gnomAD v3:
12-102846927-C-A
gnomAD v4:
12-102846927-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846927C>A , CM000674.2:g.102846927C>A | GRCh38 |
| NC_000012.11:g.103240705C>A , CM000674.1:g.103240705C>A | GRCh37 |
| NC_000012.10:g.101764835C>A | NCBI36 |
| NG_008690.1:g.75676G>T | |
| NG_008690.2:g.116484G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.937G>T MANE Select | ENSP00000448059.1:p.Ala313Ser | |
| ENST00000307000.7:c.922G>T | ENSP00000303500.2:p.Ala308Ser | |
| ENST00000549247.6:n.696G>T | ||
| ENST00000551114.2:n.599G>T | ||
| ENST00000553106.5:c.937G>T | ENSP00000448059.1:p.Ala313Ser | |
| ENST00000635477.1:c.74-2496G>T | ||
| ENST00000635528.1:n.452G>T | ||
| NM_000277.1:c.937G>T | NP_000268.1:p.Ala313Ser | |
| XM_011538422.1:c.913-2496G>T | XP_011536724.1:n.913-2496G>T | |
| NM_000277.2:c.937G>T | NP_000268.1:p.Ala313Ser | |
| NM_001354304.1:c.937G>T | NP_001341233.1:p.Ala313Ser | |
| NM_000277.3:c.937G>T MANE Select | NP_000268.1:p.Ala313Ser | |
| NM_001354304.2:c.937G>T | NP_001341233.1:p.Ala313Ser |