dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56534248C>G , CM000682.2:g.56534248C>G | GRCh38 |
| NC_000020.10:g.55109304C>G , CM000682.1:g.55109304C>G | GRCh37 |
| NC_000020.9:g.54542711C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371325.1:c.249+658C>G MANE Select | ENSP00000360376.1:n.249+658C>G | |
| NM_001013646.3:c.249+658C>G | NP_001013668.2:n.249+658C>G | |
| XM_006723793.2:c.453+658C>G | XP_006723856.1:n.453+658C>G | |
| XM_011528817.1:c.345+658C>G | XP_011527119.1:n.345+658C>G | |
| XM_017027849.1:c.453+658C>G | XP_016883338.1:n.453+658C>G | |
| XR_001754270.1:n.861+658C>G | ||
| XR_001754271.1:n.861+658C>G | ||
| XR_001754272.1:n.861+658C>G | ||
| XR_001754273.1:n.861+658C>G | ||
| NM_001013646.4:c.249+658C>G MANE Select | NP_001013668.2:n.249+658C>G |