Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103078603C>T , CM000685.2:g.103078603C>T | GRCh38 |
| NC_000023.10:g.102333531C>T , CM000685.1:g.102333531C>T | GRCh37 |
| NC_000023.9:g.102220187C>T | NCBI36 |
| NG_012572.1:g.19492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395065.8:c.1408G>A MANE Select | ENSP00000378504.3:p.Ala470Thr | |
| ENST00000395065.7:c.1408G>A | ENSP00000378504.3:p.Ala470Thr | |
| ENST00000427570.1:c.1026G>A | ||
| ENST00000468528.5:n.333G>A | ||
| ENST00000470724.5:n.492G>A | ||
| ENST00000497850.5:n.1862G>A | ||
| NM_022052.1:c.1408G>A | NP_071335.1:p.Ala470Thr | |
| NM_022052.2:c.1408G>A MANE Select | NP_071335.1:p.Ala470Thr |