Linked Data
ClinVar Variation Id:
2106476
ClinVar RCV Id:
RCV003026496
dbSNP Id:
rs2100389579
gnomAD v4:
1-75740020-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740020C>A , CM000663.2:g.75740020C>A | GRCh38 |
| NC_000001.10:g.76205705C>A , CM000663.1:g.76205705C>A | GRCh37 |
| NC_000001.9:g.75978293C>A | NCBI36 |
| NG_007045.2:g.20663C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.509C>A MANE Select | ENSP00000359878.5:p.Ala170Asp | |
| ENST00000473018.3:n.2633C>A | ||
| ENST00000541113.6:c.509C>A | ENSP00000442324.2:p.Ala170Asp | |
| ENST00000679509.1:n.1471C>A | ||
| ENST00000679530.1:c.*277C>A | ENSP00000506454.1:n.*277C>A | |
| ENST00000679615.1:n.2633C>A | ||
| ENST00000679687.1:c.71C>A | ENSP00000506598.1:p.Ala24Asp | |
| ENST00000679704.1:c.*275C>A | ENSP00000505117.1:n.*275C>A | |
| ENST00000679709.1:c.*472C>A | ENSP00000506623.1:n.*472C>A | |
| ENST00000679804.1:n.248C>A | ||
| ENST00000679976.1:c.*93C>A | ENSP00000505565.1:n.*93C>A | |
| ENST00000680166.1:n.3798C>A | ||
| ENST00000680517.1:c.*6C>A | ENSP00000505803.1:n.*6C>A | |
| ENST00000680582.1:n.1471C>A | ||
| ENST00000680613.1:c.509C>A | ENSP00000506114.1:p.Ala170Asp | |
| ENST00000680662.1:c.*423C>A | ENSP00000505080.1:n.*423C>A | |
| ENST00000680691.1:c.*172C>A | ENSP00000506487.1:n.*172C>A | |
| ENST00000680694.1:c.*97C>A | ENSP00000505658.1:n.*97C>A | |
| ENST00000680743.1:c.*176C>A | ENSP00000505073.1:n.*176C>A | |
| ENST00000680749.1:c.509C>A | ENSP00000505122.1:p.Ala170Asp | |
| ENST00000680798.1:c.*93C>A | ENSP00000505670.1:n.*93C>A | |
| ENST00000680805.1:c.509C>A | ENSP00000505447.1:p.Ala170Asp | |
| ENST00000680844.1:c.*293C>A | ENSP00000506541.1:n.*293C>A | |
| ENST00000680948.1:c.*376C>A | ENSP00000505441.1:n.*376C>A | |
| ENST00000680964.1:c.509C>A | ENSP00000505961.1:p.Ala170Asp | |
| ENST00000681037.1:c.509C>A | ENSP00000506025.1:p.Ala170Asp | |
| ENST00000681063.1:c.509C>A | ENSP00000506616.1:p.Ala170Asp | |
| ENST00000681209.1:c.*273C>A | ENSP00000505877.1:n.*273C>A | |
| ENST00000681278.1:n.866C>A | ||
| ENST00000681289.1:n.866C>A | ||
| ENST00000681361.1:c.*176C>A | ENSP00000506679.1:n.*176C>A | |
| ENST00000681430.1:c.509C>A | ENSP00000506301.1:p.Ala170Asp | |
| ENST00000681446.1:c.*91C>A | ENSP00000506244.1:n.*91C>A | |
| ENST00000681450.1:c.*180C>A | ENSP00000505660.1:n.*180C>A | |
| ENST00000681548.1:c.*95C>A | ENSP00000505275.1:n.*95C>A | |
| ENST00000681616.1:c.*277C>A | ENSP00000505111.1:n.*277C>A | |
| ENST00000681621.1:c.*93C>A | ENSP00000505770.1:n.*93C>A | |
| ENST00000681680.1:n.2633C>A | ||
| ENST00000681720.1:c.*55-5786C>A | ENSP00000505438.1:n.*55-5786C>A | |
| ENST00000681730.1:n.731C>A | ||
| ENST00000681790.1:c.251C>A | ENSP00000505130.1:p.Ala84Asp | |
| ENST00000681837.1:n.1125C>A | ||
| ENST00000681913.1:n.2633C>A | ||
| ENST00000681916.1:c.*277C>A | ENSP00000506477.1:n.*277C>A | |
| ENST00000681930.1:n.2633C>A | ||
| ENST00000370834.9:c.608C>A | ENSP00000359871.5:p.Ala203Asp | |
| ENST00000370841.8:c.509C>A | ENSP00000359878.4:p.Ala170Asp | |
| ENST00000420607.6:c.521C>A | ENSP00000409612.2:p.Ala174Asp | |
| ENST00000525808.5:c.*95C>A | ENSP00000434823.1:n.*95C>A | |
| ENST00000526129.5:c.*293C>A | ENSP00000434092.1:n.*293C>A | |
| ENST00000526196.5:c.*277C>A | ENSP00000431953.1:n.*277C>A | |
| ENST00000526930.1:n.282C>A | ||
| ENST00000529059.5:n.418C>A | ||
| ENST00000530953.6:c.*6C>A | ENSP00000431372.1:n.*6C>A | |
| ENST00000532509.5:c.*273C>A | ENSP00000432522.1:n.*273C>A | |
| ENST00000534334.5:c.*93C>A | ENSP00000435584.1:n.*93C>A | |
| ENST00000541113.5:c.401C>A | ENSP00000442324.1:p.Ala134Asp | |
| NM_000016.5:c.509C>A | NP_000007.1:p.Ala170Asp | |
| NM_001127328.2:c.521C>A | NP_001120800.1:p.Ala174Asp | |
| NM_001286042.1:c.401C>A | NP_001272971.1:p.Ala134Asp | |
| NM_001286043.1:c.608C>A | NP_001272972.1:p.Ala203Asp | |
| NM_001286044.1:c.-59C>A | NP_001272973.1:n.-59C>A | |
| NM_000016.6:c.509C>A MANE Select | NP_000007.1:p.Ala170Asp | |
| NM_001127328.3:c.521C>A | NP_001120800.1:p.Ala174Asp | |
| NM_001286042.2:c.401C>A | NP_001272971.1:p.Ala134Asp | |
| NM_001286043.2:c.608C>A | NP_001272972.1:p.Ala203Asp | |
| NM_001286044.2:c.-59C>A | NP_001272973.1:n.-59C>A |