Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45290614G>A , CM000679.2:g.45290614G>A | GRCh38 |
| NC_000017.10:g.43367980G>A , CM000679.1:g.43367980G>A | GRCh37 |
| NC_000017.9:g.40723763G>A | NCBI36 |
| NG_033823.1:g.31435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344686.8:c.132C>T MANE Select | ENSP00000478552.1:p.Ala44= | |
| ENST00000617331.3:c.132C>T | ENSP00000480974.3:p.Ala44= | |
| ENST00000344686.6:c.132C>T | ENSP00000478552.1:p.Ala44= | |
| ENST00000376926.8:c.132C>T | ENSP00000482657.1:p.Ala44= | |
| ENST00000617331.1:c.132C>T | ENSP00000480974.1:p.Ala44= | |
| NM_003954.4:c.132C>T | NP_003945.2:p.Ala44= | |
| XM_011525441.1:c.132C>T | XP_011523743.1:p.Ala44= | |
| XR_934591.1:n.241C>T | ||
| NM_003954.5:c.132C>T MANE Select | NP_003945.2:p.Ala44= | |
| XM_011525441.2:c.132C>T | XP_011523743.1:p.Ala44= |