Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48756450G>A , CM000681.2:g.48756450G>A | GRCh38 |
| NC_000019.9:g.49259707G>A , CM000681.1:g.49259707G>A | GRCh37 |
| NC_000019.8:g.53951519G>A | NCBI36 |
| NG_007510.1:g.3941C>T | |
| NG_033945.1:g.5364G>A | |
| NG_007510.2:g.3941C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019113.4:c.214G>A MANE Select | NP_061986.1:p.Ala72Thr |
| ENST00000593756.6:c.214G>A MANE Select | ENSP00000471477.1:p.Ala72Thr |
| NM_019113.2:c.214G>A | NP_061986.1:p.Ala72Thr |
| NM_019113.3:c.214G>A | NP_061986.1:p.Ala72Thr |
| ENST00000222157.4:c.214G>A | ENSP00000222157.3:p.Ala72Thr |
| ENST00000222157.5:c.214G>A | ENSP00000222157.3:p.Ala72Thr |
| ENST00000593756.5:c.214G>A | ENSP00000471477.1:p.Ala72Thr |
| XM_005258731.1:c.214G>A | XP_005258788.1:p.Ala72Thr |