Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.92802646T>C , CM000674.2:g.92802646T>C | GRCh38 |
| NC_000012.11:g.93196422T>C , CM000674.1:g.93196422T>C | GRCh37 |
| NC_000012.10:g.91720553T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003566.4:c.2428A>G MANE Select | NP_003557.3:p.Lys810Glu |
| ENST00000322349.13:c.2428A>G MANE Select | ENSP00000317955.8:p.Lys810Glu |
| ENST00000322349.12:c.2428A>G | ENSP00000317955.8:p.Lys810Glu |
| XM_011538814.1:c.2554A>G | XP_011537116.1:p.Lys852Glu |
| XM_011538814.2:c.2554A>G | XP_011537116.1:p.Lys852Glu |
| XM_011538815.1:c.2290A>G | XP_011537117.1:p.Lys764Glu |
| XM_011538815.2:c.2290A>G | XP_011537117.1:p.Lys764Glu |
| XM_011538816.1:c.2554A>G | XP_011537118.1:p.Lys852Glu |
| XM_017020018.1:c.2446A>G | XP_016875507.1:p.Lys816Glu |