Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862805T>C , CM000671.2:g.130862805T>C | GRCh38 |
| NC_000009.11:g.133738192T>C , CM000671.1:g.133738192T>C | GRCh37 |
| NC_000009.10:g.132728013T>C | NCBI36 |
| NG_012034.1:g.153925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.649T>C | ENSP00000361423.2:p.Leu217= | |
| ENST00000318560.6:c.592T>C MANE Select | ENSP00000323315.5:p.Leu198= | |
| ENST00000372348.7:c.649T>C | ENSP00000361423.2:p.Leu217= | |
| ENST00000318560.5:c.592T>C | ENSP00000323315.5:p.Leu198= | |
| ENST00000372348.6:c.649T>C | ENSP00000361423.2:p.Leu217= | |
| NM_005157.5:c.592T>C | NP_005148.2:p.Leu198= | |
| NM_007313.2:c.649T>C | NP_009297.2:p.Leu217= | |
| NM_005157.6:c.592T>C MANE Select | NP_005148.2:p.Leu198= | |
| NM_007313.3:c.649T>C | NP_009297.2:p.Leu217= |