Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154956959G>T , CM000685.2:g.154956959G>T | GRCh38 |
| NC_000023.10:g.154185234G>T , CM000685.1:g.154185234G>T | GRCh37 |
| NC_000023.9:g.153838428G>T | NCBI36 |
| NG_011403.1:g.70765C>A | |
| NG_011403.2:g.70765C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1750C>A MANE Select | ENSP00000353393.4:p.Gln584Lys | |
| ENST00000647125.1:c.*1626C>A | ENSP00000496062.1:n.*1626C>A | |
| ENST00000360256.8:c.1750C>A | ENSP00000353393.4:p.Gln584Lys | |
| NM_000132.3:c.1750C>A | NP_000123.1:p.Gln584Lys | |
| XM_011531126.1:c.1645C>A | XP_011529428.1:p.Gln549Lys | |
| NM_000132.4:c.1750C>A MANE Select | NP_000123.1:p.Gln584Lys |