Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232543592A>T , CM000664.2:g.232543592A>T | GRCh38 |
| NC_000002.11:g.233408302A>T , CM000664.1:g.233408302A>T | GRCh37 |
| NC_000002.10:g.233116546A>T | NCBI36 |
| NG_012954.1:g.8866A>T | |
| NG_012954.2:g.8901A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.928A>T MANE Select | NP_005190.4:p.Thr310Ser |
| ENST00000651502.1:c.928A>T MANE Select | ENSP00000498757.1:p.Thr310Ser |
| NM_005199.4:c.928A>T | NP_005190.4:p.Thr310Ser |
| ENST00000389492.3:c.772A>T | ENSP00000374143.3:p.Thr258Ser |
| ENST00000389494.7:c.928A>T | ENSP00000374145.3:p.Thr310Ser |