Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667304G>A , CM000683.2:g.31667304G>A | GRCh38 |
| NC_000021.8:g.33039617G>A , CM000683.1:g.33039617G>A | GRCh37 |
| NC_000021.7:g.31961488G>A | NCBI36 |
| NG_008689.1:g.12683G>A , LRG_652:g.12683G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.286G>A MANE Select | NP_000445.1:p.Ala96Thr |
| ENST00000270142.11:c.286G>A MANE Select | ENSP00000270142.7:p.Ala96Thr |
| NM_000454.4:c.286G>A , LRG_652t1:c.286G>A | NP_000445.1:p.Ala96Thr |
| ENST00000270142.10:c.286G>A | ENSP00000270142.6:p.Ala96Thr |
| ENST00000389995.4:c.229G>A | ENSP00000374645.4:p.Ala77Thr |
| ENST00000470944.1:n.1214G>A | |
| ENST00000476106.5:n.549G>A |