Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128947157G>C , CM000671.2:g.128947157G>C | GRCh38 |
| NC_000009.11:g.131709436G>C , CM000671.1:g.131709436G>C | GRCh37 |
| NC_000009.10:g.130749257G>C | NCBI36 |
| NG_017009.1:g.5577C>G , LRG_744:g.5577C>G | |
| NG_033111.1:g.4465G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014908.4:c.147C>G MANE Select | NP_055723.1:p.Leu49= |
| ENST00000372586.4:c.147C>G MANE Select | ENSP00000361667.3:p.Leu49= |
| NM_014908.3:c.147C>G , LRG_744t1:c.147C>G | NP_055723.1:p.Leu49= |
| ENST00000372586.3:c.147C>G | ENSP00000361667.3:p.Leu49= |
| ENST00000482796.1:c.39-2032G>C | ENSP00000417556.2:n.39-2032G>C |