Linked Data
ClinVar Variation Id:
581594
ClinVar RCV Id:
RCV000705471
dbSNP Id:
rs753872714
ExAC:
9:134398405 T / A
gnomAD v2:
9-134398405-T-A
gnomAD v4:
9-131523018-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523018T>A , CM000671.2:g.131523018T>A | GRCh38 |
| NC_000009.11:g.134398405T>A , CM000671.1:g.134398405T>A | GRCh37 |
| NC_000009.10:g.133388226T>A | NCBI36 |
| NG_008896.1:g.25117T>A | |
| NG_008896.2:g.25117T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1928T>A | ENSP00000343034.7:p.Leu643His | |
| ENST00000404875.7:n.2630T>A | ||
| ENST00000423007.6:c.2147T>A | ENSP00000404119.2:p.Leu716His | |
| ENST00000677295.2:c.*2434T>A | ENSP00000504346.2:n.*2434T>A | |
| ENST00000678264.2:c.*2273T>A | ENSP00000503157.2:n.*2273T>A | |
| ENST00000682070.1:n.2400T>A | ||
| ENST00000682639.1:c.87T>A | ||
| ENST00000682813.1:n.2487T>A | ||
| ENST00000683231.1:c.87T>A | ||
| ENST00000683392.1:n.4682T>A | ||
| ENST00000683712.1:n.2495T>A | ||
| ENST00000683900.1:n.3990T>A | ||
| ENST00000684062.1:n.2756T>A | ||
| ENST00000684399.1:c.87T>A | ||
| ENST00000684579.1:n.3936T>A | ||
| ENST00000341012.12:c.1928T>A | ENSP00000343034.7:p.Leu643His | |
| ENST00000372220.5:c.959T>A | ENSP00000361294.5:p.Leu320His | |
| ENST00000372228.9:c.2156T>A | ENSP00000361302.3:p.Leu719His | |
| ENST00000402686.8:c.2090T>A MANE Select | ENSP00000385797.4:p.Leu697His | |
| ENST00000676640.1:c.2090T>A | ENSP00000503281.1:p.Leu697His | |
| ENST00000676803.1:c.1151T>A | ENSP00000503093.1:p.Leu384His | |
| ENST00000676835.1:c.*1305T>A | ENSP00000502911.1:n.*1305T>A | |
| ENST00000677029.1:c.1634T>A | ENSP00000502936.1:p.Leu545His | |
| ENST00000677099.1:c.*1800T>A | ENSP00000504553.1:n.*1800T>A | |
| ENST00000677216.1:c.1739T>A | ENSP00000503772.1:p.Leu580His | |
| ENST00000677221.1:n.1115T>A | ||
| ENST00000677295.1:c.*1312T>A | ENSP00000504346.1:n.*1312T>A | |
| ENST00000677444.1:c.2035T>A | ||
| ENST00000677586.1:n.1457T>A | ||
| ENST00000677626.1:c.1739T>A | ENSP00000503552.1:p.Leu580His | |
| ENST00000677853.1:c.*1098T>A | ENSP00000503488.1:n.*1098T>A | |
| ENST00000678264.1:c.*1467T>A | ENSP00000503157.1:n.*1467T>A | |
| ENST00000678303.1:c.2000T>A | ENSP00000503696.1:p.Leu667His | |
| ENST00000678366.1:c.*2339T>A | ENSP00000504353.1:n.*2339T>A | |
| ENST00000678546.1:c.*2035T>A | ENSP00000503062.1:n.*2035T>A | |
| ENST00000678548.1:c.*2229T>A | ENSP00000503934.1:n.*2229T>A | |
| ENST00000678626.1:n.1926T>A | ||
| ENST00000678739.1:c.*2256T>A | ENSP00000503806.1:n.*2256T>A | |
| ENST00000678833.1:c.*1842T>A | ENSP00000503893.1:n.*1842T>A | |
| ENST00000679023.1:c.1928T>A | ENSP00000503718.1:p.Leu643His | |
| ENST00000679076.1:c.1709T>A | ||
| ENST00000679111.1:c.*846T>A | ENSP00000504257.1:n.*846T>A | |
| ENST00000679189.1:c.1739T>A | ENSP00000503356.1:p.Leu580His | |
| ENST00000341012.11:c.1928T>A | ENSP00000343034.7:p.Leu643His | |
| ENST00000372220.4:c.953T>A | ENSP00000361294.4:p.Leu318His | |
| ENST00000372228.7:c.2156T>A | ENSP00000361302.3:p.Leu719His | |
| ENST00000402686.7:c.2090T>A | ENSP00000385797.3:p.Leu697His | |
| ENST00000404875.6:c.1739T>A | ENSP00000384531.2:p.Leu580His | |
| ENST00000423007.5:c.2090T>A | ENSP00000404119.1:p.Leu697His | |
| ENST00000485278.5:n.2640T>A | ||
| NM_001077365.1:c.2090T>A | NP_001070833.1:p.Leu697His | |
| NM_001077366.1:c.1928T>A | NP_001070834.1:p.Leu643His | |
| NM_001136113.1:c.2090T>A | NP_001129585.1:p.Leu697His | |
| NM_001136114.1:c.1739T>A | NP_001129586.1:p.Leu580His | |
| NM_007171.3:c.2156T>A | NP_009102.3:p.Leu719His | |
| XM_005272156.1:c.2156T>A | XP_005272213.1:p.Leu719His | |
| XM_005272158.1:c.1994T>A | XP_005272215.1:p.Leu665His | |
| XM_005272159.1:c.1805T>A | XP_005272216.1:p.Leu602His | |
| XM_005272162.1:c.959T>A | XP_005272219.1:p.Leu320His | |
| XM_006716932.1:c.1805T>A | XP_006716995.1:p.Leu602His | |
| XM_011518140.1:c.2009T>A | XP_011516442.1:p.Leu670His | |
| XM_011518141.1:c.1943T>A | XP_011516443.1:p.Leu648His | |
| XM_011518142.1:c.1847T>A | XP_011516444.1:p.Leu616His | |
| XM_011518143.1:c.1841T>A | XP_011516445.1:p.Leu614His | |
| XM_011518145.1:c.1700T>A | XP_011516447.1:p.Leu567His | |
| XM_011518147.1:c.1028T>A | XP_011516449.1:p.Leu343His | |
| XR_929703.1:n.2332T>A | ||
| NM_001353193.1:c.2156T>A | NP_001340122.1:p.Leu719His | |
| NM_001353194.1:c.1928T>A | NP_001340123.1:p.Leu643His | |
| NM_001353195.1:c.1739T>A | NP_001340124.1:p.Leu580His | |
| NM_001353196.1:c.2000T>A | NP_001340125.1:p.Leu667His | |
| NM_001353197.1:c.1994T>A | NP_001340126.1:p.Leu665His | |
| NM_001353198.1:c.1994T>A | NP_001340127.1:p.Leu665His | |
| NM_001353199.1:c.1805T>A | NP_001340128.1:p.Leu602His | |
| NM_001353200.1:c.1634T>A | NP_001340129.1:p.Leu545His | |
| NR_148391.1:n.2140T>A | ||
| NR_148392.1:n.2358T>A | ||
| NR_148393.1:n.2279T>A | ||
| NR_148394.1:n.2033T>A | ||
| NR_148395.1:n.2431T>A | ||
| NR_148396.1:n.2065T>A | ||
| NR_148397.1:n.2190T>A | ||
| NR_148398.1:n.2145T>A | ||
| NR_148399.1:n.2671T>A | ||
| NR_148400.1:n.2270T>A | ||
| XM_005272162.3:c.959T>A | XP_005272219.1:p.Leu320His | |
| XM_006716932.2:c.1805T>A | XP_006716995.1:p.Leu602His | |
| XM_011518140.2:c.2009T>A | XP_011516442.1:p.Leu670His | |
| XM_011518141.2:c.1943T>A | XP_011516443.1:p.Leu648His | |
| XM_011518142.2:c.1847T>A | XP_011516444.1:p.Leu616His | |
| XM_011518143.2:c.1841T>A | XP_011516445.1:p.Leu614His | |
| XM_011518145.2:c.1700T>A | XP_011516447.1:p.Leu567His | |
| XM_017014205.2:c.959T>A | XP_016869694.1:p.Leu320His | |
| XM_024447380.1:c.959T>A | XP_024303148.1:p.Leu320His | |
| XM_024447381.1:c.1265T>A | XP_024303149.1:p.Leu422His | |
| XM_024447382.1:c.959T>A | XP_024303150.1:p.Leu320His | |
| XR_001746160.2:n.2260T>A | ||
| XR_001746162.2:n.2465T>A | ||
| XR_001746164.1:n.2182T>A | ||
| XR_001746166.2:n.2477T>A | ||
| NM_001077365.2:c.2090T>A MANE Select | NP_001070833.1:p.Leu697His | |
| NM_001077366.2:c.1928T>A | NP_001070834.1:p.Leu643His | |
| NM_001136113.2:c.2090T>A | NP_001129585.1:p.Leu697His | |
| NM_001136114.2:c.1739T>A | NP_001129586.1:p.Leu580His | |
| NM_001353193.2:c.2156T>A | NP_001340122.2:p.Leu719His | |
| NM_001353194.2:c.1928T>A | NP_001340123.1:p.Leu643His | |
| NM_001353195.2:c.1739T>A | NP_001340124.1:p.Leu580His | |
| NM_001353196.2:c.2000T>A | NP_001340125.1:p.Leu667His | |
| NM_001353197.2:c.1994T>A | NP_001340126.2:p.Leu665His | |
| NM_001353198.2:c.1994T>A | NP_001340127.2:p.Leu665His | |
| NM_001353199.2:c.1805T>A | NP_001340128.2:p.Leu602His | |
| NM_001353200.2:c.1634T>A | NP_001340129.1:p.Leu545His | |
| NM_001374689.1:c.2078T>A | NP_001361618.1:p.Leu693His | |
| NM_001374690.1:c.1871T>A | NP_001361619.1:p.Leu624His | |
| NM_001374691.1:c.1739T>A | NP_001361620.1:p.Leu580His | |
| NM_001374692.1:c.1739T>A | NP_001361621.1:p.Leu580His | |
| NM_001374693.1:c.1739T>A | NP_001361622.1:p.Leu580His | |
| NM_001374695.1:c.1700T>A | NP_001361624.1:p.Leu567His | |
| NM_007171.4:c.2156T>A | NP_009102.4:p.Leu719His | |
| NR_148391.2:n.2124T>A | ||
| NR_148392.2:n.2342T>A | ||
| NR_148393.2:n.2263T>A | ||
| NR_148394.2:n.2017T>A | ||
| NR_148395.2:n.2415T>A | ||
| NR_148396.2:n.2049T>A | ||
| NR_148397.2:n.2174T>A | ||
| NR_148398.2:n.2129T>A | ||
| NR_148399.2:n.2655T>A | ||
| NR_148400.2:n.2254T>A |