Linked Data
gnomAD v4:
17-82925045-C-A
COSMIC:
COSM3388334
MyVariant Identifiers:
chr17:g.80882921C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82925045C>A , CM000679.2:g.82925045C>A | GRCh38 |
| NC_000017.10:g.80882921C>A , CM000679.1:g.80882921C>A | GRCh37 |
| NC_000017.9:g.78476210C>A | NCBI36 |
| NG_011721.1:g.177982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1575C>A | ||
| ENST00000576677.6:n.1496C>A | ||
| ENST00000681983.1:n.2503C>A | ||
| ENST00000682099.1:n.1264C>A | ||
| ENST00000682213.1:c.*338C>A | ENSP00000508166.1:n.*338C>A | |
| ENST00000682315.1:c.681C>A | ENSP00000507232.1:p.Gly227= | |
| ENST00000682479.1:c.2457C>A | ENSP00000508214.1:p.Gly819= | |
| ENST00000682610.1:n.1607C>A | ||
| ENST00000682654.1:c.*338C>A | ENSP00000507412.1:n.*338C>A | |
| ENST00000682722.1:c.2316C>A | ENSP00000508364.1:p.Gly772= | |
| ENST00000683041.1:c.*338C>A | ENSP00000506994.1:n.*338C>A | |
| ENST00000683184.1:c.*2020C>A | ENSP00000507757.1:n.*2020C>A | |
| ENST00000683282.1:c.2283C>A | ENSP00000506913.1:p.Gly761= | |
| ENST00000683444.1:c.*1944C>A | ENSP00000507553.1:n.*1944C>A | |
| ENST00000683584.1:n.1190C>A | ||
| ENST00000683821.1:c.681C>A | ENSP00000507651.1:p.Gly227= | |
| ENST00000683839.1:n.1821C>A | ||
| ENST00000684000.1:c.2451C>A | ENSP00000506795.1:p.Gly817= | |
| ENST00000684188.1:c.2178C>A | ENSP00000507153.1:p.Gly726= | |
| ENST00000684349.1:c.2553C>A | ENSP00000508067.1:p.Gly851= | |
| ENST00000684361.1:c.2367C>A | ENSP00000507364.1:p.Gly789= | |
| ENST00000684408.1:c.2010C>A | ENSP00000506837.1:p.Gly670= | |
| ENST00000684429.1:c.2295C>A | ENSP00000507224.1:p.Gly765= | |
| ENST00000684464.1:c.2460C>A | ENSP00000508333.1:p.Gly820= | |
| ENST00000684544.1:c.2286C>A | ENSP00000507337.1:p.Gly762= | |
| ENST00000684559.1:n.1122C>A | ||
| ENST00000684760.1:c.2634C>A | ENSP00000507696.1:p.Gly878= | |
| ENST00000684776.1:c.*850C>A | ENSP00000507861.1:n.*850C>A | |
| ENST00000355528.9:c.2367C>A MANE Select | ENSP00000347719.4:p.Gly789= | |
| ENST00000355528.8:c.2367C>A | ENSP00000347719.4:p.Gly789= | |
| ENST00000539345.6:c.2367C>A | ENSP00000440671.2:p.Gly789= | |
| ENST00000571618.5:n.545C>A | ||
| ENST00000571796.5:n.1025C>A | ||
| ENST00000574422.1:c.681C>A | ENSP00000458599.1:p.Gly227= | |
| ENST00000574818.5:n.425C>A | ||
| ENST00000574886.1:n.751C>A | ||
| ENST00000574975.5:c.744C>A | ENSP00000461680.1:p.Gly248= | |
| ENST00000576760.5:c.681C>A | ENSP00000460949.1:p.Gly227= | |
| NM_005993.4:c.2367C>A | NP_005984.3:p.Gly789= | |
| XM_005256396.3:c.2316C>A | XP_005256453.1:p.Gly772= | |
| XM_005256399.3:c.1083C>A | XP_005256456.1:p.Gly361= | |
| XM_005256400.3:c.681C>A | XP_005256457.1:p.Gly227= | |
| XM_005256401.3:c.681C>A | XP_005256458.1:p.Gly227= | |
| XM_005256402.3:c.681C>A | XP_005256459.1:p.Gly227= | |
| XM_005256403.3:c.681C>A | XP_005256460.1:p.Gly227= | |
| XM_005256404.3:c.681C>A | XP_005256461.1:p.Gly227= | |
| XM_006722290.2:c.2286C>A | XP_006722353.1:p.Gly762= | |
| XM_006722291.2:c.1071C>A | XP_006722354.1:p.Gly357= | |
| XM_006722292.2:c.681C>A | XP_006722355.1:p.Gly227= | |
| XM_011523589.1:c.2022C>A | XP_011521891.1:p.Gly674= | |
| XM_011523590.1:c.2010C>A | XP_011521892.1:p.Gly670= | |
| XM_011523591.1:c.2007C>A | XP_011521893.1:p.Gly669= | |
| XM_011523592.1:c.1920C>A | XP_011521894.1:p.Gly640= | |
| XM_011523593.1:c.1614C>A | XP_011521895.1:p.Gly538= | |
| XM_011523594.1:c.1095C>A | XP_011521896.1:p.Gly365= | |
| XM_011523595.1:c.1062C>A | XP_011521897.1:p.Gly354= | |
| XM_011523597.1:c.828C>A | XP_011521899.1:p.Gly276= | |
| XM_011523598.1:c.825C>A | XP_011521900.1:p.Gly275= | |
| XM_011523599.1:c.819C>A | XP_011521901.1:p.Gly273= | |
| XM_011523600.1:c.681C>A | XP_011521902.1:p.Gly227= | |
| XR_430033.2:n.2475C>A | ||
| XM_005256396.4:c.2316C>A | XP_005256453.1:p.Gly772= | |
| XM_005256399.5:c.1083C>A | XP_005256456.1:p.Gly361= | |
| XM_005256404.4:c.681C>A | XP_005256461.1:p.Gly227= | |
| XM_006722291.4:c.1071C>A | XP_006722354.1:p.Gly357= | |
| XM_006722292.3:c.681C>A | XP_006722355.1:p.Gly227= | |
| XM_011523589.2:c.2022C>A | XP_011521891.1:p.Gly674= | |
| XM_011523591.2:c.2007C>A | XP_011521893.1:p.Gly669= | |
| XM_011523593.2:c.1614C>A | XP_011521895.1:p.Gly538= | |
| XM_011523594.2:c.1095C>A | XP_011521896.1:p.Gly365= | |
| XM_011523595.3:c.1062C>A | XP_011521897.1:p.Gly354= | |
| XM_011523597.2:c.828C>A | XP_011521899.1:p.Gly276= | |
| XM_011523599.2:c.819C>A | XP_011521901.1:p.Gly273= | |
| XM_011523600.3:c.681C>A | XP_011521902.1:p.Gly227= | |
| XM_017024987.1:c.2178C>A | XP_016880476.1:p.Gly726= | |
| XM_017024989.1:c.729C>A | XP_016880478.1:p.Gly243= | |
| XM_017024990.2:c.681C>A | XP_016880479.1:p.Gly227= | |
| XM_024450899.1:c.681C>A | XP_024306667.1:p.Gly227= | |
| XM_024450900.1:c.681C>A | XP_024306668.1:p.Gly227= | |
| XM_024450901.1:c.681C>A | XP_024306669.1:p.Gly227= | |
| XM_024450902.1:c.681C>A | XP_024306670.1:p.Gly227= | |
| XR_001752597.1:n.2475C>A | ||
| XR_001752598.1:n.2475C>A | ||
| XR_001752599.1:n.2475C>A | ||
| XR_001752600.1:n.2393C>A | ||
| NM_005993.5:c.2367C>A MANE Select | NP_005984.3:p.Gly789= |