Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414372A>T , CM000665.2:g.119414372A>T | GRCh38 |
| NC_000003.11:g.119133219A>T , CM000665.1:g.119133219A>T | GRCh37 |
| NC_000003.10:g.120615909A>T | NCBI36 |
| NG_007665.2:g.125000A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2443A>T MANE Select | ENSP00000264245.4:p.Thr815Ser | |
| ENST00000264245.8:c.2443A>T | ENSP00000264245.4:p.Thr815Ser | |
| NM_020754.3:c.2443A>T | NP_065805.2:p.Thr815Ser | |
| XM_005247671.3:c.2350A>T | XP_005247728.1:p.Thr784Ser | |
| XM_006713714.2:c.2383A>T | XP_006713777.1:p.Thr795Ser | |
| XM_006713714.3:c.2383A>T | XP_006713777.1:p.Thr795Ser | |
| XM_017006955.1:c.1951A>T | XP_016862444.1:p.Thr651Ser | |
| NM_020754.4:c.2443A>T MANE Select | NP_065805.2:p.Thr815Ser |