Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232543615C>A , CM000664.2:g.232543615C>A | GRCh38 |
| NC_000002.11:g.233408325C>A , CM000664.1:g.233408325C>A | GRCh37 |
| NC_000002.10:g.233116569C>A | NCBI36 |
| NG_012954.1:g.8889C>A | |
| NG_012954.2:g.8924C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.951C>A MANE Select | ENSP00000498757.1:p.Ile317= | |
| ENST00000389492.3:c.795C>A | ENSP00000374143.3:p.Ile265= | |
| ENST00000389494.7:c.951C>A | ENSP00000374145.3:p.Ile317= | |
| NM_005199.4:c.951C>A | NP_005190.4:p.Ile317= | |
| NM_005199.5:c.951C>A MANE Select | NP_005190.4:p.Ile317= |