Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165749825G>A , CM000664.2:g.165749825G>A | GRCh38 |
| NC_000002.11:g.166606335G>A , CM000664.1:g.166606335G>A | GRCh37 |
| NC_000002.10:g.166314581G>A | NCBI36 |
| NG_012069.1:g.49469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392701.8:c.1696C>T MANE Select | ENSP00000376465.3:p.Gln566Ter | |
| ENST00000392701.7:c.1696C>T | ENSP00000376465.3:p.Gln566Ter | |
| ENST00000409882.5:c.910C>T | ENSP00000386955.1:p.Gln304Ter | |
| NM_004482.3:c.1696C>T | NP_004473.2:p.Gln566Ter | |
| XM_005246449.1:c.1696C>T | XP_005246506.1:p.Gln566Ter | |
| XM_011510929.1:c.1696C>T | XP_011509231.1:p.Gln566Ter | |
| XM_017003770.1:c.1696C>T | XP_016859259.1:p.Gln566Ter | |
| NM_004482.4:c.1696C>T MANE Select | NP_004473.2:p.Gln566Ter |