Linked Data
dbSNP Id:
rs12913975
gnomAD v2:
15-67057161-G-A
gnomAD v3:
15-66764823-G-A
gnomAD v4:
15-66764823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66764823G>A , CM000677.2:g.66764823G>A | GRCh38 |
| NC_000015.9:g.67057161G>A , CM000677.1:g.67057161G>A | GRCh37 |
| NC_000015.8:g.64844215G>A | NCBI36 |
| NG_012244.1:g.67488G>A | |
| NG_012244.2:g.67488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.953-16174G>A MANE Select | ENSP00000288840.5:n.953-16174G>A | |
| ENST00000288840.9:c.953-16174G>A | ENSP00000288840.5:n.953-16174G>A | |
| ENST00000557916.5:c.1085-16174G>A | ENSP00000452955.1:n.1085-16174G>A | |
| ENST00000559931.5:c.257-16174G>A | ENSP00000453446.1:n.257-16174G>A | |
| NM_005585.4:c.953-16174G>A | NP_005576.3:n.953-16174G>A | |
| NR_027654.1:n.2008-16174G>A | ||
| XM_011521561.1:c.170-16174G>A | XP_011519863.1:n.170-16174G>A | |
| XR_931825.1:n.2352-16174G>A | ||
| XM_011521561.2:c.170-16174G>A | XP_011519863.1:n.170-16174G>A | |
| NM_005585.5:c.953-16174G>A MANE Select | NP_005576.3:n.953-16174G>A | |
| NR_027654.2:n.2108-16174G>A |