Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954320G>A , CM000670.2:g.19954320G>A | GRCh38 |
| NC_000008.10:g.19811831G>A , CM000670.1:g.19811831G>A | GRCh37 |
| NC_000008.9:g.19856111G>A | NCBI36 |
| NG_008855.1:g.20250G>A | |
| NG_008855.2:g.57604G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.742G>A MANE Select | ENSP00000497642.1:p.Ala248Thr | |
| ENST00000311322.8:c.742G>A | ENSP00000309757.6:p.Ala248Thr | |
| NM_000237.2:c.742G>A | NP_000228.1:p.Ala248Thr | |
| NM_000237.3:c.742G>A MANE Select | NP_000228.1:p.Ala248Thr |