Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197044T>G , CM000666.2:g.186197044T>G | GRCh38 |
| NC_000004.11:g.187118198T>G , CM000666.1:g.187118198T>G | GRCh37 |
| NC_000004.10:g.187355192T>G | NCBI36 |
| NG_007965.1:g.10525T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.518T>G MANE Select | NP_997235.3:p.Leu173Trp |
| ENST00000378802.5:c.518T>G MANE Select | ENSP00000368079.4:p.Leu173Trp |
| NM_207352.3:c.518T>G | NP_997235.3:p.Leu173Trp |
| ENST00000378802.4:c.518T>G | ENSP00000368079.4:p.Leu173Trp |
| ENST00000507209.5:n.957T>G | |
| XM_005262935.2:c.518T>G | XP_005262992.1:p.Leu173Trp |
| XM_005262935.4:c.518T>G | XP_005262992.1:p.Leu173Trp |
| XM_006714184.2:c.122T>G | XP_006714247.1:p.Leu41Trp |
| XM_017008037.1:c.122T>G | XP_016863526.1:p.Leu41Trp |