Linked Data
ClinVar Variation Id:
226086
ClinVar RCV Id:
RCV000211452
dbSNP Id:
rs875989866
gnomAD v4:
1-75761263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761263G>A , CM000663.2:g.75761263G>A | GRCh38 |
| NC_000001.10:g.76226948G>A , CM000663.1:g.76226948G>A | GRCh37 |
| NC_000001.9:g.75999536G>A | NCBI36 |
| NG_007045.2:g.41906G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1087G>A MANE Select | ENSP00000359878.5:p.Asp363Asn | |
| ENST00000473018.3:n.3211G>A | ||
| ENST00000532207.6:n.2098G>A | ||
| ENST00000541113.6:c.991G>A | ENSP00000442324.2:p.Asp331Asn | |
| ENST00000679509.1:n.2049G>A | ||
| ENST00000679530.1:c.*855G>A | ENSP00000506454.1:n.*855G>A | |
| ENST00000679615.1:n.3102G>A | ||
| ENST00000679687.1:c.649G>A | ENSP00000506598.1:p.Asp217Asn | |
| ENST00000679704.1:c.*853G>A | ENSP00000505117.1:n.*853G>A | |
| ENST00000679709.1:c.*1050G>A | ENSP00000506623.1:n.*1050G>A | |
| ENST00000679976.1:c.*671G>A | ENSP00000505565.1:n.*671G>A | |
| ENST00000680166.1:n.4376G>A | ||
| ENST00000680315.1:n.970G>A | ||
| ENST00000680517.1:c.*475G>A | ENSP00000505803.1:n.*475G>A | |
| ENST00000680582.1:n.2049G>A | ||
| ENST00000680613.1:c.*580G>A | ENSP00000506114.1:n.*580G>A | |
| ENST00000680662.1:c.*1001G>A | ENSP00000505080.1:n.*1001G>A | |
| ENST00000680691.1:c.*750G>A | ENSP00000506487.1:n.*750G>A | |
| ENST00000680694.1:c.*675G>A | ENSP00000505658.1:n.*675G>A | |
| ENST00000680743.1:c.*876G>A | ENSP00000505073.1:n.*876G>A | |
| ENST00000680749.1:c.*372G>A | ENSP00000505122.1:n.*372G>A | |
| ENST00000680798.1:c.*562G>A | ENSP00000505670.1:n.*562G>A | |
| ENST00000680805.1:c.946G>A | ENSP00000505447.1:p.Asp316Asn | |
| ENST00000680844.1:c.*871G>A | ENSP00000506541.1:n.*871G>A | |
| ENST00000680948.1:c.*954G>A | ENSP00000505441.1:n.*954G>A | |
| ENST00000680964.1:c.*180G>A | ENSP00000505961.1:n.*180G>A | |
| ENST00000681037.1:c.*2571G>A | ENSP00000506025.1:n.*2571G>A | |
| ENST00000681063.1:c.*356G>A | ENSP00000506616.1:n.*356G>A | |
| ENST00000681209.1:c.*742G>A | ENSP00000505877.1:n.*742G>A | |
| ENST00000681278.1:n.1789G>A | ||
| ENST00000681289.1:n.5082G>A | ||
| ENST00000681361.1:c.*754G>A | ENSP00000506679.1:n.*754G>A | |
| ENST00000681430.1:c.*180G>A | ENSP00000506301.1:n.*180G>A | |
| ENST00000681446.1:c.*791G>A | ENSP00000506244.1:n.*791G>A | |
| ENST00000681450.1:c.*758G>A | ENSP00000505660.1:n.*758G>A | |
| ENST00000681548.1:c.*673G>A | ENSP00000505275.1:n.*673G>A | |
| ENST00000681616.1:c.*746G>A | ENSP00000505111.1:n.*746G>A | |
| ENST00000681621.1:c.*671G>A | ENSP00000505770.1:n.*671G>A | |
| ENST00000681680.1:n.3182G>A | ||
| ENST00000681720.1:c.*542G>A | ENSP00000505438.1:n.*542G>A | |
| ENST00000681730.1:n.1309G>A | ||
| ENST00000681790.1:c.829G>A | ENSP00000505130.1:p.Asp277Asn | |
| ENST00000681837.1:n.1703G>A | ||
| ENST00000681913.1:n.3333G>A | ||
| ENST00000681916.1:c.*855G>A | ENSP00000506477.1:n.*855G>A | |
| ENST00000681930.1:n.3211G>A | ||
| ENST00000370834.9:c.1186G>A | ENSP00000359871.5:p.Asp396Asn | |
| ENST00000370841.8:c.1087G>A | ENSP00000359878.4:p.Asp363Asn | |
| ENST00000420607.6:c.1099G>A | ENSP00000409612.2:p.Asp367Asn | |
| ENST00000481374.1:n.360G>A | ||
| ENST00000525808.5:c.*673G>A | ENSP00000434823.1:n.*673G>A | |
| ENST00000526129.5:c.*871G>A | ENSP00000434092.1:n.*871G>A | |
| ENST00000526196.5:c.*855G>A | ENSP00000431953.1:n.*855G>A | |
| ENST00000528016.1:c.160-7914G>A | ENSP00000434284.1:n.160-7914G>A | |
| ENST00000529059.5:n.996G>A | ||
| ENST00000541113.5:c.979G>A | ENSP00000442324.1:p.Asp327Asn | |
| NM_000016.5:c.1087G>A | NP_000007.1:p.Asp363Asn | |
| NM_001127328.2:c.1099G>A | NP_001120800.1:p.Asp367Asn | |
| NM_001286042.1:c.979G>A | NP_001272971.1:p.Asp327Asn | |
| NM_001286043.1:c.1186G>A | NP_001272972.1:p.Asp396Asn | |
| NM_001286044.1:c.520G>A | NP_001272973.1:p.Asp174Asn | |
| NM_000016.6:c.1087G>A MANE Select | NP_000007.1:p.Asp363Asn | |
| NM_001127328.3:c.1099G>A | NP_001120800.1:p.Asp367Asn | |
| NM_001286042.2:c.979G>A | NP_001272971.1:p.Asp327Asn | |
| NM_001286043.2:c.1186G>A | NP_001272972.1:p.Asp396Asn | |
| NM_001286044.2:c.520G>A | NP_001272973.1:p.Asp174Asn |