dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34558028C>A , CM000682.2:g.34558028C>A | GRCh38 |
| NC_000020.10:g.33145832C>A , CM000682.1:g.33145832C>A | GRCh37 |
| NC_000020.9:g.32609493C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374837.7:c.53-1180C>A | ENSP00000363970.3:n.53-1180C>A | |
| NM_181509.2:c.53-1180C>A | NP_852610.1:n.53-1180C>A | |
| XM_011529083.1:c.176-710C>A | XP_011527385.1:n.176-710C>A | |
| XM_011529084.1:c.176-710C>A | XP_011527386.1:n.176-710C>A | |
| XM_011529085.1:c.53-710C>A | XP_011527387.1:n.53-710C>A | |
| XM_011529083.2:c.176-710C>A | XP_011527385.1:n.176-710C>A | |
| XM_011529084.2:c.176-710C>A | XP_011527386.1:n.176-710C>A | |
| XM_011529085.2:c.53-710C>A | XP_011527387.1:n.53-710C>A | |
| NM_181509.3:c.53-1180C>A | NP_852610.1:n.53-1180C>A |