Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881736T>G , CM000663.2:g.160881736T>G | GRCh38 |
| NC_000001.10:g.160851526T>G , CM000663.1:g.160851526T>G | GRCh37 |
| NC_000001.9:g.159118150T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.405+221A>C MANE Select | ENSP00000323587.3:n.405+221A>C | |
| ENST00000326245.3:c.405+221A>C | ENSP00000323587.3:n.405+221A>C | |
| ENST00000464077.1:n.339+221A>C | ||
| NM_017625.2:c.405+221A>C | NP_060095.2:n.405+221A>C | |
| NM_017625.3:c.405+221A>C MANE Select | NP_060095.2:n.405+221A>C |