Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871440T>C , CM000667.2:g.14871440T>C | GRCh38 |
| NC_000005.9:g.14871549T>C , CM000667.1:g.14871549T>C | GRCh37 |
| NC_000005.8:g.14924549T>C | NCBI36 |
| NG_008273.1:g.5339A>G | |
| NG_008273.2:g.5346A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_054027.6:c.8A>G MANE Select | NP_473368.1:p.Lys3Arg |
| ENST00000284268.8:c.8A>G MANE Select | ENSP00000284268.6:p.Lys3Arg |
| NM_054027.4:c.8A>G | NP_473368.1:p.Lys3Arg |
| NM_054027.5:c.8A>G | NP_473368.1:p.Lys3Arg |
| ENST00000284268.6:c.8A>G | ENSP00000284268.6:p.Lys3Arg |
| ENST00000505140.1:c.8A>G | ENSP00000426332.1:p.Lys3Arg |
| ENST00000513115.1:n.33A>G | |
| XM_011514067.1:c.8A>G | XP_011512369.1:p.Lys3Arg |