Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872921C= , CM000671.2:g.130872921C= | GRCh38 |
| NC_000009.11:g.133748308C= , CM000671.1:g.133748308C= | GRCh37 |
| NC_000009.10:g.132738129C= | NCBI36 |
| NG_012034.1:g.164041C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1026C= | ENSP00000361423.2:p.Leu342= | |
| ENST00000318560.6:c.969C= MANE Select | ENSP00000323315.5:p.Leu323= | |
| ENST00000372348.7:c.1026C= | ENSP00000361423.2:p.Leu342= | |
| ENST00000318560.5:c.969C= | ENSP00000323315.5:p.Leu323= | |
| ENST00000372348.6:c.1026C= | ENSP00000361423.2:p.Leu342= | |
| NM_005157.5:c.969C= | NP_005148.2:p.Leu323= | |
| NM_007313.2:c.1026C= | NP_009297.2:p.Leu342= | |
| NM_005157.6:c.969C= MANE Select | NP_005148.2:p.Leu323= | |
| NM_007313.3:c.1026C= | NP_009297.2:p.Leu342= |