Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221214G>T , CM000684.2:g.50221214G>T | GRCh38 |
| NC_000022.10:g.50659643G>T , CM000684.1:g.50659643G>T | GRCh37 |
| NC_000022.9:g.49001770G>T | NCBI36 |
| NG_032160.1:g.28758C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3145C>A MANE Select | ENSP00000248846.5:p.Arg1049= | |
| ENST00000248846.9:c.3145C>A | ENSP00000248846.5:p.Arg1049= | |
| ENST00000439308.6:c.3145C>A | ENSP00000397387.2:p.Arg1049= | |
| ENST00000491449.5:n.1452C>A | ||
| ENST00000498611.5:n.3617+61C>A | ||
| NM_020461.3:c.3145C>A | NP_065194.2:p.Arg1049= | |
| XR_938347.1:n.3710C>A | ||
| XR_938348.1:n.3049+814C>A | ||
| XR_001755343.2:n.3714C>A | ||
| XR_001755344.2:n.3714C>A | ||
| XR_002958720.1:n.3053+814C>A | ||
| XR_938347.2:n.3714C>A | ||
| NM_020461.4:c.3145C>A MANE Select | NP_065194.3:p.Arg1049= |