Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585620C= , CM000665.2:g.98585620C= | GRCh38 |
| NC_000003.11:g.98304464C= , CM000665.1:g.98304464C= | GRCh37 |
| NC_000003.10:g.99787154C= | NCBI36 |
| NG_015994.1:g.12992G= | |
| NG_015994.2:g.12992G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.993G= MANE Select | ENSP00000497326.1:p.Arg331= | |
| ENST00000264193.2:c.993G= | ENSP00000264193.2:p.Arg331= | |
| ENST00000510489.1:n.243G= | ||
| NM_000097.5:c.993G= | NP_000088.3:p.Arg331= | |
| XM_005247125.3:c.993G= | XP_005247182.1:p.Arg331= | |
| NM_000097.7:c.993G= MANE Select | NP_000088.3:p.Arg331= | |
| XM_005247125.4:c.993G= | XP_005247182.1:p.Arg331= | |
| XR_001740025.2:n.1164G= | ||
| XR_001740026.1:n.1728G= | ||
| XR_001740027.1:n.1268G= | ||
| XR_001740028.1:n.1234G= |