Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3227489T>G , CM000668.2:g.3227489T>G | GRCh38 |
| NC_000006.11:g.3227723T>G , CM000668.1:g.3227723T>G | GRCh37 |
| NC_000006.10:g.3172722T>G | NCBI36 |
| NG_016715.1:g.5246A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259818.8:c.55A>C MANE Select | ENSP00000259818.6:p.Lys19Gln | |
| ENST00000680070.1:n.168A>C | ||
| ENST00000681757.1:n.69A>C | ||
| ENST00000259818.7:c.55A>C | ENSP00000259818.6:p.Lys19Gln | |
| ENST00000473006.1:n.175-820A>C | ||
| NM_178012.4:c.55A>C | NP_821080.1:p.Lys19Gln | |
| XM_011514571.1:c.-159-820A>C | XP_011512873.1:n.-159-820A>C | |
| NM_178012.5:c.55A>C MANE Select | NP_821080.1:p.Lys19Gln |