Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10630099G>A , CM000679.2:g.10630099G>A | GRCh38 |
| NC_000017.10:g.10533416G>A , CM000679.1:g.10533416G>A | GRCh37 |
| NC_000017.9:g.10474141G>A | NCBI36 |
| NG_011537.1:g.32200C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002470.4:c.5555C>T MANE Select | NP_002461.2:p.Thr1852Met |
| ENST00000583535.6:c.5555C>T MANE Select | ENSP00000464317.1:p.Thr1852Met |
| NM_002470.3:c.5555C>T | NP_002461.2:p.Thr1852Met |
| ENST00000583535.5:c.5555C>T | ENSP00000464317.1:p.Thr1852Met |
| XM_011523870.1:c.5555C>T | XP_011522172.1:p.Thr1852Met |
| XM_011523870.3:c.5555C>T | XP_011522172.1:p.Thr1852Met |
| XM_011523871.1:c.5555C>T | XP_011522173.1:p.Thr1852Met |
| XM_011523871.2:c.5555C>T | XP_011522173.1:p.Thr1852Met |