Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814060A>C , CM000664.2:g.218814060A>C | GRCh38 |
| NC_000002.11:g.219678783A>C , CM000664.1:g.219678783A>C | GRCh37 |
| NC_000002.10:g.219387027A>C | NCBI36 |
| NG_007959.1:g.37312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1057A>C MANE Select | ENSP00000258415.4:p.Lys353Gln | |
| ENST00000258415.8:c.1057A>C | ENSP00000258415.4:p.Lys353Gln | |
| ENST00000445971.1:c.*518A>C | ENSP00000404945.1:n.*518A>C | |
| ENST00000466602.1:n.1179A>C | ||
| ENST00000494263.5:n.1491A>C | ||
| NM_000784.3:c.1057A>C | NP_000775.1:p.Lys353Gln | |
| XM_017003488.2:c.637A>C | XP_016858977.1:p.Lys213Gln | |
| NM_000784.4:c.1057A>C MANE Select | NP_000775.1:p.Lys353Gln |