Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3977437C>T , CM000681.2:g.3977437C>T | GRCh38 |
| NC_000019.9:g.3977435C>T , CM000681.1:g.3977435C>T | GRCh37 |
| NC_000019.8:g.3928435C>T | NCBI36 |
| NG_042274.1:g.13027G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001961.4:c.2241G>A MANE Select | NP_001952.1:p.Val747= |
| ENST00000309311.7:c.2241G>A MANE Select | ENSP00000307940.5:p.Val747= |
| NM_001961.3:c.2241G>A | NP_001952.1:p.Val747= |
| ENST00000309311.6:c.2241G>A | ENSP00000307940.5:p.Val747= |
| ENST00000600794.1:c.107+591G>A |