Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001295C>T , CM000674.2:g.107001295C>T | GRCh38 |
| NC_000012.11:g.107395073C>T , CM000674.1:g.107395073C>T | GRCh37 |
| NC_000012.10:g.105919203C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.669G>A MANE Select | ENSP00000008527.5:p.Arg223= | |
| ENST00000008527.9:c.669G>A | ENSP00000008527.5:p.Arg223= | |
| ENST00000546722.1:n.162G>A | ||
| ENST00000552790.5:n.1228G>A | ||
| NM_004075.4:c.669G>A | NP_004066.1:p.Arg223= | |
| XM_011537939.1:c.585G>A | XP_011536241.1:p.Arg195= | |
| XM_017018832.2:c.585G>A | XP_016874321.1:p.Arg195= | |
| XM_024448844.1:c.669G>A | XP_024304612.1:p.Arg223= | |
| XM_024448845.1:c.585G>A | XP_024304613.1:p.Arg195= | |
| NM_004075.5:c.669G>A MANE Select | NP_004066.1:p.Arg223= |