dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201915824T>G , CM000663.2:g.201915824T>G | GRCh38 |
| NC_000001.10:g.201884952T>G , CM000663.1:g.201884952T>G | GRCh37 |
| NC_000001.9:g.200151575T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367288.5:c.262-15073A>C MANE Select | ENSP00000356257.4:n.262-15073A>C | |
| ENST00000367288.4:c.262-15073A>C | ENSP00000356257.4:n.262-15073A>C | |
| ENST00000616739.1:c.178-15073A>C | ENSP00000480209.1:n.178-15073A>C | |
| NM_012134.2:c.262-15073A>C | NP_036266.2:n.262-15073A>C | |
| NM_012134.3:c.262-15073A>C MANE Select | NP_036266.2:n.262-15073A>C |