Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204165349C>T , CM000663.2:g.204165349C>T | GRCh38 |
| NC_000001.10:g.204134477C>T , CM000663.1:g.204134477C>T | GRCh37 |
| NC_000001.9:g.202401100C>T | NCBI36 |
| NG_012122.1:g.5989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.98+847G>A MANE Select | ENSP00000272190.8:n.98+847G>A | |
| ENST00000638118.1:c.-16-3186G>A | ENSP00000490307.1:n.-16-3186G>A | |
| ENST00000272190.8:c.98+847G>A | ENSP00000272190.8:n.98+847G>A | |
| NM_000537.3:c.98+847G>A | NP_000528.1:n.98+847G>A | |
| NM_000537.4:c.98+847G>A MANE Select | NP_000528.1:n.98+847G>A |