Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27102121G>C , CM000663.2:g.27102121G>C | GRCh38 |
| NC_000001.10:g.27428612G>C , CM000663.1:g.27428612G>C | GRCh37 |
| NC_000001.9:g.27301199G>C | NCBI36 |
| NG_030006.1:g.57840C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.1830C>G MANE Select | ENSP00000263980.3:p.His610Gln | |
| ENST00000263980.7:c.1830C>G | ENSP00000263980.3:p.His610Gln | |
| ENST00000374089.5:n.1055C>G | ||
| ENST00000447808.1:n.307C>G | ||
| NM_003047.4:c.1830C>G | NP_003038.2:p.His610Gln | |
| NR_046474.1:n.2165C>G | ||
| XM_011542021.1:c.1500C>G | XP_011540323.1:p.His500Gln | |
| XM_011542021.3:c.1500C>G | XP_011540323.1:p.His500Gln | |
| NM_003047.5:c.1830C>G MANE Select | NP_003038.2:p.His610Gln | |
| NR_046474.2:n.2160C>G |