Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199289G>C , CM000671.2:g.137199289G>C | GRCh38 |
| NC_000009.11:g.140093741G>C , CM000671.1:g.140093741G>C | GRCh37 |
| NC_000009.10:g.139213562G>C | NCBI36 |
| NG_027801.1:g.6423C>G | |
| NG_027801.2:g.9905C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1423C>G MANE Select | ENSP00000387100.4:p.Leu475Val | |
| ENST00000333046.8:c.817C>G | ENSP00000327617.4:p.Leu273Val | |
| ENST00000409012.4:c.1423C>G | ENSP00000387100.4:p.Leu475Val | |
| ENST00000541945.1:n.90+4815C>G | ||
| NM_001128228.2:c.1423C>G | NP_001121700.2:p.Leu475Val | |
| NM_001128228.3:c.1423C>G MANE Select | NP_001121700.2:p.Leu475Val |