Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135029312T>G , CM000667.2:g.135029312T>G | GRCh38 |
| NC_000005.9:g.134365002T>G , CM000667.1:g.134365002T>G | GRCh37 |
| NC_000005.8:g.134392901T>G | NCBI36 |
| NG_012114.1:g.9963A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002653.5:c.412A>C MANE Select | NP_002644.4:p.Lys138Gln |
| ENST00000265340.12:c.412A>C MANE Select | ENSP00000265340.6:p.Lys138Gln |
| NM_002653.4:c.412A>C | NP_002644.4:p.Lys138Gln |
| ENST00000265340.11:c.412A>C | ENSP00000265340.6:p.Lys138Gln |
| ENST00000503586.1:c.534A>C | |
| ENST00000504936.1:n.745A>C | |
| ENST00000506438.5:c.412A>C | ENSP00000427542.1:p.Lys138Gln |