Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34303394G>A , CM000682.2:g.34303394G>A | GRCh38 |
| NC_000020.10:g.32891200G>A , CM000682.1:g.32891200G>A | GRCh37 |
| NC_000020.9:g.32354861G>A | NCBI36 |
| NG_012630.1:g.13409C>T | |
| NG_012630.2:g.13409C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000687.2:c.-124C>T | NP_000678.1:n.-124C>T |
| NM_000687.3:c.-124C>T | NP_000678.1:n.-124C>T |
| NM_001161766.1:c.-56-7809C>T | NP_001155238.1:n.-56-7809C>T |
| NM_001161766.2:c.-56-7809C>T | NP_001155238.1:n.-56-7809C>T |
| NM_001362750.1:c.-124C>T | NP_001349679.1:n.-124C>T |
| ENST00000538132.1:c.-56-7809C>T | ENSP00000442820.1:n.-56-7809C>T |
| XM_011528659.1:c.-56-7809C>T | XP_011526961.1:n.-56-7809C>T |