Linked Data
ClinVar Variation Id:
226095
ClinVar RCV Id:
RCV000211439
dbSNP Id:
rs759158371
ExAC:
1:76227050 T / A
gnomAD v2:
1-76227050-T-A
gnomAD v4:
1-75761365-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761365T>A , CM000663.2:g.75761365T>A | GRCh38 |
| NC_000001.10:g.76227050T>A , CM000663.1:g.76227050T>A | GRCh37 |
| NC_000001.9:g.75999638T>A | NCBI36 |
| NG_007045.2:g.42008T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1189T>A MANE Select | ENSP00000359878.5:p.Tyr397Asn | |
| ENST00000473018.3:n.3313T>A | ||
| ENST00000532207.6:n.2200T>A | ||
| ENST00000541113.6:c.1093T>A | ENSP00000442324.2:p.Tyr365Asn | |
| ENST00000679509.1:n.2151T>A | ||
| ENST00000679530.1:c.*957T>A | ENSP00000506454.1:n.*957T>A | |
| ENST00000679615.1:n.3204T>A | ||
| ENST00000679687.1:c.751T>A | ENSP00000506598.1:p.Tyr251Asn | |
| ENST00000679704.1:c.*955T>A | ENSP00000505117.1:n.*955T>A | |
| ENST00000679709.1:c.*1152T>A | ENSP00000506623.1:n.*1152T>A | |
| ENST00000679976.1:c.*773T>A | ENSP00000505565.1:n.*773T>A | |
| ENST00000680166.1:n.4478T>A | ||
| ENST00000680315.1:n.1072T>A | ||
| ENST00000680517.1:c.*577T>A | ENSP00000505803.1:n.*577T>A | |
| ENST00000680582.1:n.2151T>A | ||
| ENST00000680613.1:c.*682T>A | ENSP00000506114.1:n.*682T>A | |
| ENST00000680662.1:c.*1103T>A | ENSP00000505080.1:n.*1103T>A | |
| ENST00000680691.1:c.*852T>A | ENSP00000506487.1:n.*852T>A | |
| ENST00000680694.1:c.*777T>A | ENSP00000505658.1:n.*777T>A | |
| ENST00000680743.1:c.*978T>A | ENSP00000505073.1:n.*978T>A | |
| ENST00000680749.1:c.*474T>A | ENSP00000505122.1:n.*474T>A | |
| ENST00000680798.1:c.*664T>A | ENSP00000505670.1:n.*664T>A | |
| ENST00000680805.1:c.1048T>A | ENSP00000505447.1:p.Tyr350Asn | |
| ENST00000680844.1:c.*973T>A | ENSP00000506541.1:n.*973T>A | |
| ENST00000680948.1:c.*1056T>A | ENSP00000505441.1:n.*1056T>A | |
| ENST00000680964.1:c.*282T>A | ENSP00000505961.1:n.*282T>A | |
| ENST00000681037.1:c.*2673T>A | ENSP00000506025.1:n.*2673T>A | |
| ENST00000681063.1:c.*458T>A | ENSP00000506616.1:n.*458T>A | |
| ENST00000681209.1:c.*844T>A | ENSP00000505877.1:n.*844T>A | |
| ENST00000681278.1:n.1891T>A | ||
| ENST00000681289.1:n.5184T>A | ||
| ENST00000681361.1:c.*856T>A | ENSP00000506679.1:n.*856T>A | |
| ENST00000681430.1:c.*282T>A | ENSP00000506301.1:n.*282T>A | |
| ENST00000681446.1:c.*893T>A | ENSP00000506244.1:n.*893T>A | |
| ENST00000681450.1:c.*860T>A | ENSP00000505660.1:n.*860T>A | |
| ENST00000681548.1:c.*775T>A | ENSP00000505275.1:n.*775T>A | |
| ENST00000681616.1:c.*848T>A | ENSP00000505111.1:n.*848T>A | |
| ENST00000681621.1:c.*773T>A | ENSP00000505770.1:n.*773T>A | |
| ENST00000681680.1:n.3284T>A | ||
| ENST00000681720.1:c.*644T>A | ENSP00000505438.1:n.*644T>A | |
| ENST00000681730.1:n.1411T>A | ||
| ENST00000681790.1:c.931T>A | ENSP00000505130.1:p.Tyr311Asn | |
| ENST00000681837.1:n.1805T>A | ||
| ENST00000681913.1:n.3435T>A | ||
| ENST00000681916.1:c.*957T>A | ENSP00000506477.1:n.*957T>A | |
| ENST00000681930.1:n.3313T>A | ||
| ENST00000370834.9:c.1288T>A | ENSP00000359871.5:p.Tyr430Asn | |
| ENST00000370841.8:c.1189T>A | ENSP00000359878.4:p.Tyr397Asn | |
| ENST00000420607.6:c.1201T>A | ENSP00000409612.2:p.Tyr401Asn | |
| ENST00000481374.1:n.462T>A | ||
| ENST00000525808.5:c.*775T>A | ENSP00000434823.1:n.*775T>A | |
| ENST00000526129.5:c.*973T>A | ENSP00000434092.1:n.*973T>A | |
| ENST00000526196.5:c.*957T>A | ENSP00000431953.1:n.*957T>A | |
| ENST00000528016.1:c.160-7812T>A | ENSP00000434284.1:n.160-7812T>A | |
| ENST00000529059.5:n.1098T>A | ||
| ENST00000541113.5:c.1081T>A | ENSP00000442324.1:p.Tyr361Asn | |
| NM_000016.5:c.1189T>A | NP_000007.1:p.Tyr397Asn | |
| NM_001127328.2:c.1201T>A | NP_001120800.1:p.Tyr401Asn | |
| NM_001286042.1:c.1081T>A | NP_001272971.1:p.Tyr361Asn | |
| NM_001286043.1:c.1288T>A | NP_001272972.1:p.Tyr430Asn | |
| NM_001286044.1:c.622T>A | NP_001272973.1:p.Tyr208Asn | |
| NM_000016.6:c.1189T>A MANE Select | NP_000007.1:p.Tyr397Asn | |
| NM_001127328.3:c.1201T>A | NP_001120800.1:p.Tyr401Asn | |
| NM_001286042.2:c.1081T>A | NP_001272971.1:p.Tyr361Asn | |
| NM_001286043.2:c.1288T>A | NP_001272972.1:p.Tyr430Asn | |
| NM_001286044.2:c.622T>A | NP_001272973.1:p.Tyr208Asn |