Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781046G>T , CM000677.2:g.66781046G>T | GRCh38 |
| NC_000015.9:g.67073384G>T , CM000677.1:g.67073384G>T | GRCh37 |
| NC_000015.8:g.64860438G>T | NCBI36 |
| NG_012244.1:g.83711G>T | |
| NG_012244.2:g.83711G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1002G>T MANE Select | ENSP00000288840.5:p.Val334= | |
| ENST00000288840.9:c.1002G>T | ENSP00000288840.5:p.Val334= | |
| ENST00000557916.5:c.1134G>T | ENSP00000452955.1:n.1134G>T | |
| ENST00000559931.5:c.306G>T | ENSP00000453446.1:n.306G>T | |
| NM_005585.4:c.1002G>T | NP_005576.3:p.Val334= | |
| NR_027654.1:n.2057G>T | ||
| XM_011521561.1:c.219G>T | XP_011519863.1:p.Val73= | |
| XR_931825.1:n.2401G>T | ||
| XM_011521561.2:c.219G>T | XP_011519863.1:p.Val73= | |
| NM_005585.5:c.1002G>T MANE Select | NP_005576.3:p.Val334= | |
| NR_027654.2:n.2157G>T |