Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585497G>A , CM000665.2:g.98585497G>A | GRCh38 |
| NC_000003.11:g.98304341G>A , CM000665.1:g.98304341G>A | GRCh37 |
| NC_000003.10:g.99787031G>A | NCBI36 |
| NG_015994.1:g.13115C>T | |
| NG_015994.2:g.13115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512905.6:c.2C>T | ||
| ENST00000647941.2:c.1116C>T MANE Select | ENSP00000497326.1:p.His372= | |
| ENST00000264193.2:c.1116C>T | ENSP00000264193.2:p.His372= | |
| ENST00000510489.1:n.366C>T | ||
| ENST00000512905.5:c.2C>T | ||
| NM_000097.5:c.1116C>T | NP_000088.3:p.His372= | |
| XM_005247125.3:c.1116C>T | XP_005247182.1:p.His372= | |
| NM_000097.7:c.1116C>T MANE Select | NP_000088.3:p.His372= | |
| XM_005247125.4:c.1116C>T | XP_005247182.1:p.His372= | |
| XR_001740025.2:n.1287C>T | ||
| XR_001740026.1:n.1851C>T | ||
| XR_001740027.1:n.1391C>T | ||
| XR_001740028.1:n.1357C>T |