Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939497C>A , CM000670.2:g.19939497C>A | GRCh38 |
| NC_000008.10:g.19797008C>A , CM000670.1:g.19797008C>A | GRCh37 |
| NC_000008.9:g.19841288C>A | NCBI36 |
| NG_008855.1:g.5427C>A | |
| NG_008855.2:g.42781C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.57C>A MANE Select | NP_000228.1:p.Thr19= |
| ENST00000650287.1:c.57C>A MANE Select | ENSP00000497642.1:p.Thr19= |
| NM_000237.2:c.57C>A | NP_000228.1:p.Thr19= |
| ENST00000311322.8:c.57C>A | ENSP00000309757.6:p.Thr19= |
| ENST00000519773.1:c.57C>A | ENSP00000431028.1:p.Thr19= |
| ENST00000520959.5:c.-140-8683C>A | ENSP00000428496.1:n.-140-8683C>A |
| ENST00000521994.1:n.242C>A | |
| ENST00000522701.5:c.57C>A | ENSP00000428557.1:p.Thr19= |
| ENST00000523696.1:n.126C>A | |
| ENST00000524029.5:c.57C>A | ENSP00000428237.1:p.Thr19= |