Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165749846C>G , CM000664.2:g.165749846C>G | GRCh38 |
| NC_000002.11:g.166606356C>G , CM000664.1:g.166606356C>G | GRCh37 |
| NC_000002.10:g.166314602C>G | NCBI36 |
| NG_012069.1:g.49448G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004482.4:c.1675G>C MANE Select | NP_004473.2:p.Glu559Gln |
| ENST00000392701.8:c.1675G>C MANE Select | ENSP00000376465.3:p.Glu559Gln |
| NM_004482.3:c.1675G>C | NP_004473.2:p.Glu559Gln |
| ENST00000392701.7:c.1675G>C | ENSP00000376465.3:p.Glu559Gln |
| ENST00000409882.5:c.889G>C | ENSP00000386955.1:p.Glu297Gln |
| XM_005246449.1:c.1675G>C | XP_005246506.1:p.Glu559Gln |
| XM_011510929.1:c.1675G>C | XP_011509231.1:p.Glu559Gln |
| XM_017003770.1:c.1675G>C | XP_016859259.1:p.Glu559Gln |