Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232543071T>G , CM000664.2:g.232543071T>G | GRCh38 |
| NC_000002.11:g.233407781T>G , CM000664.1:g.233407781T>G | GRCh37 |
| NC_000002.10:g.233116025T>G | NCBI36 |
| NG_012954.1:g.8345T>G | |
| NG_012954.2:g.8380T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.794T>G MANE Select | NP_005190.4:p.Leu265Arg |
| ENST00000651502.1:c.794T>G MANE Select | ENSP00000498757.1:p.Leu265Arg |
| NM_005199.4:c.794T>G | NP_005190.4:p.Leu265Arg |
| ENST00000389492.3:c.638T>G | ENSP00000374143.3:p.Leu213Arg |
| ENST00000389494.7:c.794T>G | ENSP00000374145.3:p.Leu265Arg |