Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703160A>T , CM000681.2:g.48703160A>T | GRCh38 |
| NC_000019.9:g.49206417A>T , CM000681.1:g.49206417A>T | GRCh37 |
| NC_000019.8:g.53898229A>T | NCBI36 |
| NG_007511.1:g.12190A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000511.6:c.204A>T MANE Select | NP_000502.4:p.Ala68= |
| ENST00000425340.3:c.204A>T MANE Select | ENSP00000387498.2:p.Ala68= |
| NM_000511.5:c.204A>T | NP_000502.4:p.Ala68= |
| NM_001097638.2:c.204A>T | NP_001091107.1:p.Ala68= |
| NM_001097638.3:c.204A>T | NP_001091107.1:p.Ala68= |
| NR_131188.1:n.689T>A | |
| ENST00000391876.5:c.204A>T | ENSP00000375748.4:p.Ala68= |
| ENST00000425340.2:c.204A>T | ENSP00000387498.2:p.Ala68= |
| ENST00000522966.1:c.204A>T | ENSP00000430227.1:p.Ala68= |
| ENST00000522966.2:c.204A>T | ENSP00000430227.2:p.Ala68= |