dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31266099C>G , CM000664.2:g.31266099C>G | GRCh38 |
| NC_000002.11:g.31488965C>G , CM000664.1:g.31488965C>G | GRCh37 |
| NC_000002.10:g.31342469C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322054.10:c.1081-78C>G MANE Select | ENSP00000327116.5:n.1081-78C>G | |
| ENST00000322054.9:c.1081-78C>G | ENSP00000327116.5:n.1081-78C>G | |
| ENST00000541626.2:c.1081-78C>G | ENSP00000440685.2:n.1081-78C>G | |
| NM_014600.2:c.1081-78C>G | NP_055415.1:n.1081-78C>G | |
| XM_011532806.1:c.442-78C>G | XP_011531108.1:n.442-78C>G | |
| XM_011532806.2:c.442-78C>G | XP_011531108.1:n.442-78C>G | |
| NM_014600.3:c.1081-78C>G MANE Select | NP_055415.1:n.1081-78C>G |