Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74697054T>A , CM000667.2:g.74697054T>A | GRCh38 |
| NC_000005.9:g.73992879T>A , CM000667.1:g.73992879T>A | GRCh37 |
| NC_000005.8:g.74028635T>A | NCBI36 |
| NG_009770.1:g.16911T>A | |
| NG_009770.2:g.62032T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.617T>A MANE Select | NP_000512.2:p.Leu206Ter |
| ENST00000261416.12:c.617T>A MANE Select | ENSP00000261416.7:p.Leu206Ter |
| NM_000521.3:c.617T>A | NP_000512.1:p.Leu206Ter |
| NM_001292004.1:c.-59T>A | NP_001278933.1:n.-59T>A |
| NM_001292004.2:c.-59T>A | NP_001278933.1:n.-59T>A |
| ENST00000261416.11:c.617T>A | ENSP00000261416.7:p.Leu206Ter |
| ENST00000510820.1:n.336T>A | |
| ENST00000511181.5:c.-59T>A | ENSP00000426285.1:n.-59T>A |
| ENST00000513079.5:n.682T>A |