Linked Data
dbSNP Id:
rs10507130
gnomAD v2:
12-101753954-G-A
gnomAD v3:
12-101360176-G-A
gnomAD v4:
12-101360176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101360176G>A , CM000674.2:g.101360176G>A | GRCh38 |
| NC_000012.11:g.101753954G>A , CM000674.1:g.101753954G>A | GRCh37 |
| NC_000012.10:g.100278085G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261637.5:c.5692-1786G>A MANE Select | ENSP00000261637.4:n.5692-1786G>A | |
| ENST00000261637.4:c.5692-1786G>A | ENSP00000261637.4:n.5692-1786G>A | |
| NM_014503.2:c.5692-1786G>A | NP_055318.2:n.5692-1786G>A | |
| XM_006719343.2:c.5692-1786G>A | XP_006719406.1:n.5692-1786G>A | |
| NM_014503.3:c.5692-1786G>A MANE Select | NP_055318.2:n.5692-1786G>A |