gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130770618C>A , CM000671.2:g.130770618C>A | GRCh38 |
| NC_000009.11:g.133646005C>A , CM000671.1:g.133646005C>A | GRCh37 |
| NC_000009.10:g.132635826C>A | NCBI36 |
| NG_012034.1:g.61738C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.136+56163C>A | ENSP00000361423.2:n.136+56163C>A | |
| ENST00000372348.7:c.136+56163C>A | ENSP00000361423.2:n.136+56163C>A | |
| ENST00000372348.6:c.136+56163C>A | ENSP00000361423.2:n.136+56163C>A | |
| ENST00000393293.4:c.136+56163C>A | ENSP00000376971.4:n.136+56163C>A | |
| NM_007313.2:c.136+56163C>A | NP_009297.2:n.136+56163C>A | |
| NM_007313.3:c.136+56163C>A | NP_009297.2:n.136+56163C>A |