Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948340G>A , CM000670.2:g.19948340G>A | GRCh38 |
| NC_000008.10:g.19805851G>A , CM000670.1:g.19805851G>A | GRCh37 |
| NC_000008.9:g.19850131G>A | NCBI36 |
| NG_008855.1:g.14270G>A | |
| NG_008855.2:g.51624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.249G>A MANE Select | ENSP00000497642.1:p.Thr83= | |
| ENST00000311322.8:c.249G>A | ENSP00000309757.6:p.Thr83= | |
| ENST00000520959.5:c.21G>A | ENSP00000428496.1:p.Thr7= | |
| ENST00000521994.1:n.434G>A | ||
| ENST00000522701.5:c.249G>A | ENSP00000428557.1:p.Thr83= | |
| ENST00000523696.1:n.318G>A | ||
| ENST00000524029.5:c.249G>A | ENSP00000428237.1:p.Thr83= | |
| NM_000237.2:c.249G>A | NP_000228.1:p.Thr83= | |
| NM_000237.3:c.249G>A MANE Select | NP_000228.1:p.Thr83= |