Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2723628C= , CM000669.2:g.2723628C= | GRCh38 |
| NC_000007.13:g.2763262C= , CM000669.1:g.2763262C= | GRCh37 |
| NC_000007.12:g.2729788C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489665.1:n.550+13812C= | ||
| XM_011515151.1:c.778+13812C= | XP_011513453.1:n.778+13812C= | |
| NM_001321766.1:c.948+13812C= | NP_001308695.1:n.948+13812C= | |
| XM_011515151.3:c.778+13812C= | XP_011513453.1:n.778+13812C= | |
| XM_017011774.2:c.778+13812C= | XP_016867263.1:n.778+13812C= | |
| NM_001321766.2:c.948+13812C= | NP_001308695.1:n.948+13812C= | |
| NM_001384740.1:c.948+13812C= | NP_001371669.1:n.948+13812C= | |
| NM_001384741.1:c.779-7393C= | NP_001371670.1:n.779-7393C= | |
| NM_001384742.1:c.779-853C= | NP_001371671.1:n.779-853C= |