Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9960691G>T , CM000681.2:g.9960691G>T | GRCh38 |
| NC_000019.9:g.10071367G>T , CM000681.1:g.10071367G>T | GRCh37 |
| NC_000019.8:g.9932367G>T | NCBI36 |
| NG_046943.1:g.54848C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015719.4:c.5051C>A MANE Select | NP_056534.2:p.Thr1684Lys |
| ENST00000264828.4:c.5051C>A MANE Select | ENSP00000264828.3:p.Thr1684Lys |
| NM_015719.3:c.5051C>A | NP_056534.2:p.Thr1684Lys |
| ENST00000264828.3:c.5051C>A | ENSP00000264828.3:p.Thr1684Lys |
| XM_011528042.1:c.5048C>A | XP_011526344.1:p.Thr1683Lys |
| XM_011528042.2:c.5048C>A | XP_011526344.1:p.Thr1683Lys |
| XM_017026849.2:c.2714C>A | XP_016882338.1:p.Thr905Lys |