Linked Data
dbSNP Id:
rs1392336162
gnomAD v2:
12-57962958-G-A
gnomAD v3:
12-57569175-G-A
gnomAD v4:
12-57569175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569175G>A , CM000674.2:g.57569175G>A | GRCh38 |
| NC_000012.11:g.57962958G>A , CM000674.1:g.57962958G>A | GRCh37 |
| NC_000012.10:g.56249225G>A | NCBI36 |
| NG_008155.1:g.24112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.820-81G>A MANE Select | ENSP00000408979.2:n.820-81G>A | |
| ENST00000674619.1:c.820-81G>A | ENSP00000502270.1:n.820-81G>A | |
| ENST00000676457.1:c.715-81G>A | ENSP00000501588.1:n.715-81G>A | |
| ENST00000286452.5:c.553-81G>A | ENSP00000286452.5:n.553-81G>A | |
| ENST00000455537.6:c.820-81G>A | ENSP00000408979.2:n.820-81G>A | |
| NM_004984.2:c.820-81G>A | NP_004975.2:n.820-81G>A | |
| NM_001354705.1:c.553-81G>A | NP_001341634.1:n.553-81G>A | |
| NM_004984.3:c.820-81G>A | NP_004975.2:n.820-81G>A | |
| XR_002957324.1:n.1053-81G>A | ||
| NM_004984.4:c.820-81G>A MANE Select | NP_004975.2:n.820-81G>A | |
| NM_001354705.2:c.553-81G>A | NP_001341634.1:n.553-81G>A |