Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030579T>G , CM000663.2:g.94030579T>G | GRCh38 |
| NC_000001.10:g.94496135T>G , CM000663.1:g.94496135T>G | GRCh37 |
| NC_000001.9:g.94268723T>G | NCBI36 |
| NG_009073.1:g.95571A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4254-53A>C MANE Select | ENSP00000359245.3:n.4254-53A>C | |
| ENST00000370225.3:c.4254-53A>C | ENSP00000359245.3:n.4254-53A>C | |
| ENST00000536513.5:c.630-53A>C | ENSP00000439707.2:n.630-53A>C | |
| NM_000350.2:c.4254-53A>C | NP_000341.2:n.4254-53A>C | |
| NM_000350.3:c.4254-53A>C MANE Select | NP_000341.2:n.4254-53A>C |