Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3227512T>C , CM000668.2:g.3227512T>C | GRCh38 |
| NC_000006.11:g.3227746T>C , CM000668.1:g.3227746T>C | GRCh37 |
| NC_000006.10:g.3172745T>C | NCBI36 |
| NG_016715.1:g.5223A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.32A>G MANE Select | ENSP00000259818.6:p.Gln11Arg | |
| ENST00000680070.1:n.145A>G | ||
| ENST00000681757.1:n.46A>G | ||
| ENST00000259818.7:c.32A>G | ENSP00000259818.6:p.Gln11Arg | |
| ENST00000473006.1:n.175-843A>G | ||
| NM_178012.4:c.32A>G | NP_821080.1:p.Gln11Arg | |
| XM_011514571.1:c.-159-843A>G | XP_011512873.1:n.-159-843A>G | |
| NM_178012.5:c.32A>G MANE Select | NP_821080.1:p.Gln11Arg |