Linked Data
ClinVar Variation Id:
130005
dbSNP Id:
rs35242383
ExAC:
9:134388668 C / T
gnomAD v2:
9-134388668-C-T
gnomAD v3:
9-131513281-C-T
gnomAD v4:
9-131513281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131513281C>T , CM000671.2:g.131513281C>T | GRCh38 |
| NC_000009.11:g.134388668C>T , CM000671.1:g.134388668C>T | GRCh37 |
| NC_000009.10:g.133378489C>T | NCBI36 |
| NG_008896.1:g.15380C>T | |
| NG_008896.2:g.15380C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341012.13:c.963C>T | ENSP00000343034.7:p.His321= | |
| ENST00000404875.7:n.1665C>T | ||
| ENST00000423007.6:c.1182C>T | ENSP00000404119.2:p.His394= | |
| ENST00000677295.2:c.*1469C>T | ENSP00000504346.2:n.*1469C>T | |
| ENST00000678264.2:c.*1308C>T | ENSP00000503157.2:n.*1308C>T | |
| ENST00000678942.2:c.*678C>T | ENSP00000504690.2:n.*678C>T | |
| ENST00000682070.1:n.1590C>T | ||
| ENST00000682813.1:n.1390C>T | ||
| ENST00000683392.1:n.3872C>T | ||
| ENST00000683712.1:n.1530C>T | ||
| ENST00000683900.1:n.3025C>T | ||
| ENST00000684062.1:n.1791C>T | ||
| ENST00000684579.1:n.2971C>T | ||
| ENST00000341012.12:c.963C>T | ENSP00000343034.7:p.His321= | |
| ENST00000372220.5:c.-7C>T | ENSP00000361294.5:n.-7C>T | |
| ENST00000372228.9:c.1191C>T | ENSP00000361302.3:p.His397= | |
| ENST00000402686.8:c.1125C>T MANE Select | ENSP00000385797.4:p.His375= | |
| ENST00000676640.1:c.1125C>T | ENSP00000503281.1:p.His375= | |
| ENST00000676803.1:c.300C>T | ENSP00000503093.1:p.His100= | |
| ENST00000676835.1:c.*340C>T | ENSP00000502911.1:n.*340C>T | |
| ENST00000677029.1:c.669C>T | ENSP00000502936.1:p.His223= | |
| ENST00000677099.1:c.*835C>T | ENSP00000504553.1:n.*835C>T | |
| ENST00000677216.1:c.774C>T | ENSP00000503772.1:p.His258= | |
| ENST00000677293.1:c.300C>T | ENSP00000504278.1:p.His100= | |
| ENST00000677295.1:c.*502C>T | ENSP00000504346.1:n.*502C>T | |
| ENST00000677444.1:c.931C>T | ||
| ENST00000677586.1:n.606C>T | ||
| ENST00000677626.1:c.824+1814C>T | ENSP00000503552.1:n.824+1814C>T | |
| ENST00000677677.1:n.1085C>T | ||
| ENST00000677853.1:c.*133C>T | ENSP00000503488.1:n.*133C>T | |
| ENST00000677944.1:c.387C>T | ||
| ENST00000678264.1:c.*502C>T | ENSP00000503157.1:n.*502C>T | |
| ENST00000678303.1:c.1035C>T | ENSP00000503696.1:p.His345= | |
| ENST00000678366.1:c.*1374C>T | ENSP00000504353.1:n.*1374C>T | |
| ENST00000678546.1:c.*1070C>T | ENSP00000503062.1:n.*1070C>T | |
| ENST00000678548.1:c.*1197C>T | ENSP00000503934.1:n.*1197C>T | |
| ENST00000678626.1:n.822C>T | ||
| ENST00000678733.1:c.256+1145C>T | ||
| ENST00000678739.1:c.*1451C>T | ENSP00000503806.1:n.*1451C>T | |
| ENST00000678795.1:n.212C>T | ||
| ENST00000678833.1:c.*572C>T | ENSP00000503893.1:n.*572C>T | |
| ENST00000678942.1:c.305C>T | ENSP00000504690.1:n.305C>T | |
| ENST00000679023.1:c.963C>T | ENSP00000503718.1:p.His321= | |
| ENST00000679073.1:c.503C>T | ENSP00000504356.1:n.503C>T | |
| ENST00000679076.1:c.744C>T | ||
| ENST00000679111.1:c.1125C>T | ENSP00000504257.1:p.His375= | |
| ENST00000679189.1:c.774C>T | ENSP00000503356.1:p.His258= | |
| ENST00000341012.11:c.963C>T | ENSP00000343034.7:p.His321= | |
| ENST00000372228.7:c.1191C>T | ENSP00000361302.3:p.His397= | |
| ENST00000402686.7:c.1125C>T | ENSP00000385797.3:p.His375= | |
| ENST00000404875.6:c.774C>T | ENSP00000384531.2:p.His258= | |
| ENST00000423007.5:c.1125C>T | ENSP00000404119.1:p.His375= | |
| ENST00000441334.5:c.840C>T | ENSP00000395060.1:p.His280= | |
| ENST00000462375.5:n.951C>T | ||
| ENST00000485278.5:n.1680C>T | ||
| NM_001077365.1:c.1125C>T | NP_001070833.1:p.His375= | |
| NM_001077366.1:c.963C>T | NP_001070834.1:p.His321= | |
| NM_001136113.1:c.1125C>T | NP_001129585.1:p.His375= | |
| NM_001136114.1:c.774C>T | NP_001129586.1:p.His258= | |
| NM_007171.3:c.1191C>T | NP_009102.3:p.His397= | |
| XM_005272156.1:c.1191C>T | XP_005272213.1:p.His397= | |
| XM_005272158.1:c.1029C>T | XP_005272215.1:p.His343= | |
| XM_005272159.1:c.840C>T | XP_005272216.1:p.His280= | |
| XM_005272162.1:c.-7C>T | XP_005272219.1:n.-7C>T | |
| XM_006716932.1:c.840C>T | XP_006716995.1:p.His280= | |
| XM_011518140.1:c.1044C>T | XP_011516442.1:p.His348= | |
| XM_011518141.1:c.978C>T | XP_011516443.1:p.His326= | |
| XM_011518142.1:c.882C>T | XP_011516444.1:p.His294= | |
| XM_011518143.1:c.876C>T | XP_011516445.1:p.His292= | |
| XM_011518144.1:c.1191C>T | XP_011516446.1:p.His397= | |
| XM_011518145.1:c.735C>T | XP_011516447.1:p.His245= | |
| XM_011518146.1:c.876C>T | XP_011516448.1:p.His292= | |
| XR_929703.1:n.1367C>T | ||
| NM_001353193.1:c.1191C>T | NP_001340122.1:p.His397= | |
| NM_001353194.1:c.963C>T | NP_001340123.1:p.His321= | |
| NM_001353195.1:c.774C>T | NP_001340124.1:p.His258= | |
| NM_001353196.1:c.1035C>T | NP_001340125.1:p.His345= | |
| NM_001353197.1:c.1029C>T | NP_001340126.1:p.His343= | |
| NM_001353198.1:c.1029C>T | NP_001340127.1:p.His343= | |
| NM_001353199.1:c.840C>T | NP_001340128.1:p.His280= | |
| NM_001353200.1:c.669C>T | NP_001340129.1:p.His223= | |
| NR_148391.1:n.1175C>T | ||
| NR_148392.1:n.1393C>T | ||
| NR_148393.1:n.1175C>T | ||
| NR_148394.1:n.1068C>T | ||
| NR_148395.1:n.1327C>T | ||
| NR_148396.1:n.961C>T | ||
| NR_148397.1:n.1225C>T | ||
| NR_148398.1:n.1180C>T | ||
| NR_148399.1:n.1567C>T | ||
| NR_148400.1:n.1166C>T | ||
| XM_005272162.3:c.-7C>T | XP_005272219.1:n.-7C>T | |
| XM_006716932.2:c.840C>T | XP_006716995.1:p.His280= | |
| XM_011518140.2:c.1044C>T | XP_011516442.1:p.His348= | |
| XM_011518141.2:c.978C>T | XP_011516443.1:p.His326= | |
| XM_011518142.2:c.882C>T | XP_011516444.1:p.His294= | |
| XM_011518143.2:c.876C>T | XP_011516445.1:p.His292= | |
| XM_011518145.2:c.735C>T | XP_011516447.1:p.His245= | |
| XM_017014205.2:c.-7C>T | XP_016869694.1:n.-7C>T | |
| XM_024447380.1:c.-7C>T | XP_024303148.1:n.-7C>T | |
| XM_024447381.1:c.300C>T | XP_024303149.1:p.His100= | |
| XM_024447382.1:c.-7C>T | XP_024303150.1:n.-7C>T | |
| XR_001746160.2:n.1295C>T | ||
| XR_001746162.2:n.1361C>T | ||
| XR_001746164.1:n.1078C>T | ||
| XR_001746166.2:n.1512C>T | ||
| NM_001077365.2:c.1125C>T MANE Select | NP_001070833.1:p.His375= | |
| NM_001077366.2:c.963C>T | NP_001070834.1:p.His321= | |
| NM_001136113.2:c.1125C>T | NP_001129585.1:p.His375= | |
| NM_001136114.2:c.774C>T | NP_001129586.1:p.His258= | |
| NM_001353193.2:c.1191C>T | NP_001340122.2:p.His397= | |
| NM_001353194.2:c.963C>T | NP_001340123.1:p.His321= | |
| NM_001353195.2:c.774C>T | NP_001340124.1:p.His258= | |
| NM_001353196.2:c.1035C>T | NP_001340125.1:p.His345= | |
| NM_001353197.2:c.1029C>T | NP_001340126.2:p.His343= | |
| NM_001353198.2:c.1029C>T | NP_001340127.2:p.His343= | |
| NM_001353199.2:c.840C>T | NP_001340128.2:p.His280= | |
| NM_001353200.2:c.669C>T | NP_001340129.1:p.His223= | |
| NM_001374689.1:c.1113C>T | NP_001361618.1:p.His371= | |
| NM_001374690.1:c.1125C>T | NP_001361619.1:p.His375= | |
| NM_001374691.1:c.774C>T | NP_001361620.1:p.His258= | |
| NM_001374692.1:c.774C>T | NP_001361621.1:p.His258= | |
| NM_001374693.1:c.824+1814C>T | NP_001361622.1:n.824+1814C>T | |
| NM_001374695.1:c.735C>T | NP_001361624.1:p.His245= | |
| NM_007171.4:c.1191C>T | NP_009102.4:p.His397= | |
| NR_148391.2:n.1159C>T | ||
| NR_148392.2:n.1377C>T | ||
| NR_148393.2:n.1159C>T | ||
| NR_148394.2:n.1052C>T | ||
| NR_148395.2:n.1311C>T | ||
| NR_148396.2:n.945C>T | ||
| NR_148397.2:n.1209C>T | ||
| NR_148398.2:n.1164C>T | ||
| NR_148399.2:n.1551C>T | ||
| NR_148400.2:n.1150C>T |