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