Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703733T>C , CM000681.2:g.48703733T>C | GRCh38 |
| NC_000019.9:g.49206990T>C , CM000681.1:g.49206990T>C | GRCh37 |
| NC_000019.8:g.53898802T>C | NCBI36 |
| NG_007511.1:g.12763T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.777T>C MANE Select | ENSP00000387498.2:p.Asp259= | |
| ENST00000522966.2:c.777T>C | ENSP00000430227.2:p.Asp259= | |
| ENST00000391876.5:c.777T>C | ENSP00000375748.4:p.Asp259= | |
| ENST00000425340.2:c.777T>C | ENSP00000387498.2:p.Asp259= | |
| NM_000511.5:c.777T>C | NP_000502.4:p.Asp259= | |
| NM_001097638.2:c.777T>C | NP_001091107.1:p.Asp259= | |
| NR_131188.1:n.116A>G | ||
| NM_000511.6:c.777T>C MANE Select | NP_000502.4:p.Asp259= | |
| NM_001097638.3:c.777T>C | NP_001091107.1:p.Asp259= |