Linked Data
dbSNP Id:
rs147996581
ExAC:
12:58138971 G / A
gnomAD v2:
12-58138971-G-A
gnomAD v3:
12-57745188-G-A
gnomAD v4:
12-57745188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57745188G>A , CM000674.2:g.57745188G>A | GRCh38 |
| NC_000012.11:g.58138971G>A , CM000674.1:g.58138971G>A | GRCh37 |
| NC_000012.10:g.56425238G>A | NCBI36 |
| NG_029755.1:g.1974C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257910.8:c.34G>A MANE Select | ENSP00000257910.3:p.Ala12Thr | |
| ENST00000257910.7:c.34G>A | ENSP00000257910.3:p.Ala12Thr | |
| ENST00000546993.5:n.131G>A | ||
| ENST00000547311.5:n.236-557G>A | ||
| ENST00000547472.5:c.34G>A | ENSP00000449199.1:p.Ala12Thr | |
| ENST00000547992.5:c.34G>A | ENSP00000448209.1:p.Ala12Thr | |
| ENST00000548093.5:n.120G>A | ||
| ENST00000549052.5:c.34G>A | ENSP00000450195.1:p.Ala12Thr | |
| ENST00000550528.5:n.106-557G>A | ||
| ENST00000552816.5:c.-215G>A | ENSP00000449312.1:n.-215G>A | |
| ENST00000553089.5:c.34G>A | ENSP00000446482.1:p.Ala12Thr | |
| ENST00000553221.5:n.250-557G>A | ||
| NM_005981.3:c.34G>A | NP_005972.1:p.Ala12Thr | |
| XM_005269074.2:c.290G>A | XP_005269131.2:p.Cys97Tyr | |
| NM_001330168.1:c.34G>A | NP_001317097.1:p.Ala12Thr | |
| NM_001330169.1:c.-215G>A | NP_001317098.1:n.-215G>A | |
| NM_005981.4:c.34G>A | NP_005972.1:p.Ala12Thr | |
| NM_005981.5:c.34G>A MANE Select | NP_005972.1:p.Ala12Thr | |
| NM_001330168.2:c.34G>A | NP_001317097.1:p.Ala12Thr | |
| NM_001330169.2:c.-215G>A | NP_001317098.1:n.-215G>A |