Linked Data
ClinVar Variation Id:
1478499
ClinVar RCV Id:
RCV001974213
dbSNP Id:
rs1199770829
gnomAD v2:
1-76205785-A-G
gnomAD v4:
1-75740100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740100A>G , CM000663.2:g.75740100A>G | GRCh38 |
| NC_000001.10:g.76205785A>G , CM000663.1:g.76205785A>G | GRCh37 |
| NC_000001.9:g.75978373A>G | NCBI36 |
| NG_007045.2:g.20743A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.589A>G MANE Select | ENSP00000359878.5:p.Lys197Glu | |
| ENST00000473018.3:n.2713A>G | ||
| ENST00000541113.6:c.589A>G | ENSP00000442324.2:p.Lys197Glu | |
| ENST00000679509.1:n.1551A>G | ||
| ENST00000679530.1:c.*357A>G | ENSP00000506454.1:n.*357A>G | |
| ENST00000679615.1:n.2713A>G | ||
| ENST00000679687.1:c.151A>G | ENSP00000506598.1:p.Lys51Glu | |
| ENST00000679704.1:c.*355A>G | ENSP00000505117.1:n.*355A>G | |
| ENST00000679709.1:c.*552A>G | ENSP00000506623.1:n.*552A>G | |
| ENST00000679804.1:n.328A>G | ||
| ENST00000679976.1:c.*173A>G | ENSP00000505565.1:n.*173A>G | |
| ENST00000680166.1:n.3878A>G | ||
| ENST00000680517.1:c.*86A>G | ENSP00000505803.1:n.*86A>G | |
| ENST00000680582.1:n.1551A>G | ||
| ENST00000680613.1:c.589A>G | ENSP00000506114.1:p.Lys197Glu | |
| ENST00000680662.1:c.*503A>G | ENSP00000505080.1:n.*503A>G | |
| ENST00000680691.1:c.*252A>G | ENSP00000506487.1:n.*252A>G | |
| ENST00000680694.1:c.*177A>G | ENSP00000505658.1:n.*177A>G | |
| ENST00000680743.1:c.*256A>G | ENSP00000505073.1:n.*256A>G | |
| ENST00000680749.1:c.589A>G | ENSP00000505122.1:p.Lys197Glu | |
| ENST00000680798.1:c.*173A>G | ENSP00000505670.1:n.*173A>G | |
| ENST00000680805.1:c.589A>G | ENSP00000505447.1:p.Lys197Glu | |
| ENST00000680844.1:c.*373A>G | ENSP00000506541.1:n.*373A>G | |
| ENST00000680948.1:c.*456A>G | ENSP00000505441.1:n.*456A>G | |
| ENST00000680964.1:c.589A>G | ENSP00000505961.1:p.Lys197Glu | |
| ENST00000681037.1:c.589A>G | ENSP00000506025.1:p.Lys197Glu | |
| ENST00000681063.1:c.589A>G | ENSP00000506616.1:p.Lys197Glu | |
| ENST00000681209.1:c.*353A>G | ENSP00000505877.1:n.*353A>G | |
| ENST00000681278.1:n.946A>G | ||
| ENST00000681289.1:n.946A>G | ||
| ENST00000681361.1:c.*256A>G | ENSP00000506679.1:n.*256A>G | |
| ENST00000681430.1:c.589A>G | ENSP00000506301.1:p.Lys197Glu | |
| ENST00000681446.1:c.*171A>G | ENSP00000506244.1:n.*171A>G | |
| ENST00000681450.1:c.*260A>G | ENSP00000505660.1:n.*260A>G | |
| ENST00000681548.1:c.*175A>G | ENSP00000505275.1:n.*175A>G | |
| ENST00000681616.1:c.*357A>G | ENSP00000505111.1:n.*357A>G | |
| ENST00000681621.1:c.*173A>G | ENSP00000505770.1:n.*173A>G | |
| ENST00000681680.1:n.2713A>G | ||
| ENST00000681720.1:c.*55-5706A>G | ENSP00000505438.1:n.*55-5706A>G | |
| ENST00000681730.1:n.811A>G | ||
| ENST00000681790.1:c.331A>G | ENSP00000505130.1:p.Lys111Glu | |
| ENST00000681837.1:n.1205A>G | ||
| ENST00000681913.1:n.2713A>G | ||
| ENST00000681916.1:c.*357A>G | ENSP00000506477.1:n.*357A>G | |
| ENST00000681930.1:n.2713A>G | ||
| ENST00000370834.9:c.688A>G | ENSP00000359871.5:p.Lys230Glu | |
| ENST00000370841.8:c.589A>G | ENSP00000359878.4:p.Lys197Glu | |
| ENST00000420607.6:c.601A>G | ENSP00000409612.2:p.Lys201Glu | |
| ENST00000525808.5:c.*175A>G | ENSP00000434823.1:n.*175A>G | |
| ENST00000526129.5:c.*373A>G | ENSP00000434092.1:n.*373A>G | |
| ENST00000526196.5:c.*357A>G | ENSP00000431953.1:n.*357A>G | |
| ENST00000526930.1:n.362A>G | ||
| ENST00000529059.5:n.498A>G | ||
| ENST00000530953.6:c.*86A>G | ENSP00000431372.1:n.*86A>G | |
| ENST00000532509.5:c.*353A>G | ENSP00000432522.1:n.*353A>G | |
| ENST00000534334.5:c.*173A>G | ENSP00000435584.1:n.*173A>G | |
| ENST00000541113.5:c.481A>G | ENSP00000442324.1:p.Lys161Glu | |
| NM_000016.5:c.589A>G | NP_000007.1:p.Lys197Glu | |
| NM_001127328.2:c.601A>G | NP_001120800.1:p.Lys201Glu | |
| NM_001286042.1:c.481A>G | NP_001272971.1:p.Lys161Glu | |
| NM_001286043.1:c.688A>G | NP_001272972.1:p.Lys230Glu | |
| NM_001286044.1:c.22A>G | NP_001272973.1:p.Lys8Glu | |
| NM_000016.6:c.589A>G MANE Select | NP_000007.1:p.Lys197Glu | |
| NM_001127328.3:c.601A>G | NP_001120800.1:p.Lys201Glu | |
| NM_001286042.2:c.481A>G | NP_001272971.1:p.Lys161Glu | |
| NM_001286043.2:c.688A>G | NP_001272972.1:p.Lys230Glu | |
| NM_001286044.2:c.22A>G | NP_001272973.1:p.Lys8Glu |