Linked Data
dbSNP Id:
rs1206656229
gnomAD v2:
12-103306598-C-A
gnomAD v3:
12-102912820-C-A
gnomAD v4:
12-102912820-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912820C>A , CM000674.2:g.102912820C>A | GRCh38 |
| NC_000012.11:g.103306598C>A , CM000674.1:g.103306598C>A | GRCh37 |
| NC_000012.10:g.101830728C>A | NCBI36 |
| NG_008690.1:g.9783G>T | |
| NG_008690.2:g.50591G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.139G>T MANE Select | ENSP00000448059.1:p.Ala47Ser | |
| ENST00000307000.7:c.124G>T | ENSP00000303500.2:p.Ala42Ser | |
| ENST00000546844.1:c.139G>T | ENSP00000446658.1:p.Ala47Ser | |
| ENST00000548677.2:n.226G>T | ||
| ENST00000548928.1:n.61G>T | ||
| ENST00000549111.5:n.235G>T | ||
| ENST00000550978.6:c.123G>T | ||
| ENST00000551337.5:c.139G>T | ENSP00000447620.1:p.Ala47Ser | |
| ENST00000551988.5:n.228G>T | ||
| ENST00000553106.5:c.139G>T | ENSP00000448059.1:p.Ala47Ser | |
| ENST00000635500.1:n.107G>T | ||
| NM_000277.1:c.139G>T | NP_000268.1:p.Ala47Ser | |
| XM_011538422.1:c.139G>T | XP_011536724.1:p.Ala47Ser | |
| NM_000277.2:c.139G>T | NP_000268.1:p.Ala47Ser | |
| NM_001354304.1:c.139G>T | NP_001341233.1:p.Ala47Ser | |
| XM_017019370.2:c.139G>T | XP_016874859.1:p.Ala47Ser | |
| NM_000277.3:c.139G>T MANE Select | NP_000268.1:p.Ala47Ser | |
| NM_001354304.2:c.139G>T | NP_001341233.1:p.Ala47Ser |