Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862943A>C , CM000671.2:g.130862943A>C | GRCh38 |
| NC_000009.11:g.133738330A>C , CM000671.1:g.133738330A>C | GRCh37 |
| NC_000009.10:g.132728151A>C | NCBI36 |
| NG_012034.1:g.154063A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005157.6:c.730A>C MANE Select | NP_005148.2:p.Met244Leu |
| ENST00000318560.6:c.730A>C MANE Select | ENSP00000323315.5:p.Met244Leu |
| NM_005157.5:c.730A>C | NP_005148.2:p.Met244Leu |
| NM_007313.2:c.787A>C | NP_009297.2:p.Met263Leu |
| NM_007313.3:c.787A>C | NP_009297.2:p.Met263Leu |
| ENST00000318560.5:c.730A>C | ENSP00000323315.5:p.Met244Leu |
| ENST00000372348.6:c.787A>C | ENSP00000361423.2:p.Met263Leu |
| ENST00000372348.7:c.787A>C | ENSP00000361423.2:p.Met263Leu |
| ENST00000372348.9:c.787A>C | ENSP00000361423.2:p.Met263Leu |