Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154191635G>T , CM000685.2:g.154191635G>T | GRCh38 |
| NC_000023.10:g.153457126G>T , CM000685.1:g.153457126G>T | GRCh37 |
| NG_011606.1:g.14042G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595290.6:c.579-53G>T MANE Select | ENSP00000472316.1:n.579-53G>T | |
| ENST00000595290.5:c.579-53G>T | ENSP00000472316.1:n.579-53G>T | |
| ENST00000595330.1:n.588+1413G>T | ||
| ENST00000596998.2:c.166-53G>T | ||
| NM_000513.2:c.579-53G>T MANE Select | NP_000504.1:n.579-53G>T |