Linked Data
ClinVar Variation Id:
1612182
ClinVar RCV Id:
RCV002150468
dbSNP Id:
rs764896299
ExAC:
9:98241357 C / T
gnomAD v2:
9-98241357-C-T
gnomAD v3:
9-95479075-C-T
gnomAD v4:
9-95479075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95479075C>T , CM000671.2:g.95479075C>T | GRCh38 |
| NC_000009.11:g.98241357C>T , CM000671.1:g.98241357C>T | GRCh37 |
| NC_000009.10:g.97281178C>T | NCBI36 |
| NG_007664.1:g.42891G>A , LRG_515:g.42891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.942G>A | ENSP00000518556.1:p.Glu314= | |
| ENST00000437951.6:c.1137G>A MANE Plus Clinical | ENSP00000389744.2:p.Glu379= | |
| ENST00000690194.1:c.687G>A | ENSP00000509379.1:p.Glu229= | |
| ENST00000692981.1:c.687G>A | ENSP00000510238.1:p.Glu229= | |
| ENST00000331920.11:c.1140G>A MANE Select | ENSP00000332353.6:p.Glu380= | |
| ENST00000331920.10:c.1140G>A | ENSP00000332353.6:p.Glu380= | |
| ENST00000375271.4:c.291G>A | ENSP00000364420.4:p.Glu97= | |
| ENST00000375274.6:c.1137G>A | ENSP00000364423.2:p.Glu379= | |
| ENST00000375290.6:c.777G>A | ENSP00000364439.2:p.Glu259= | |
| ENST00000418258.5:c.687G>A | ENSP00000396135.1:p.Glu229= | |
| ENST00000421141.5:c.687G>A | ENSP00000399981.1:p.Glu229= | |
| ENST00000429896.6:c.687G>A | ENSP00000414823.2:p.Glu229= | |
| ENST00000430669.6:c.942G>A | ENSP00000410287.2:p.Glu314= | |
| ENST00000437951.5:c.942G>A | ENSP00000389744.1:p.Glu314= | |
| NM_000264.3:c.1140G>A , LRG_515t1:c.1140G>A | NP_000255.2:p.Glu380= | |
| NM_001083602.1:c.942G>A , LRG_515t2:c.942G>A | NP_001077071.1:p.Glu314= | |
| NM_001083603.1:c.1137G>A | NP_001077072.1:p.Glu379= | |
| NM_001083604.1:c.687G>A | NP_001077073.1:p.Glu229= | |
| NM_001083605.1:c.687G>A | NP_001077074.1:p.Glu229= | |
| NM_001083606.1:c.687G>A | NP_001077075.1:p.Glu229= | |
| NM_001083607.1:c.687G>A | NP_001077076.1:p.Glu229= | |
| XM_005252102.2:c.687G>A | XP_005252159.1:p.Glu229= | |
| XM_011518868.1:c.1140G>A | XP_011517170.1:p.Glu380= | |
| XM_011518869.1:c.687G>A | XP_011517171.1:p.Glu229= | |
| XM_011518870.1:c.687G>A | XP_011517172.1:p.Glu229= | |
| XM_011518871.1:c.687G>A | XP_011517173.1:p.Glu229= | |
| XM_011518872.1:c.687G>A | XP_011517174.1:p.Glu229= | |
| XM_011518873.1:c.300G>A | XP_011517175.1:p.Glu100= | |
| XM_011518874.1:c.1140G>A | XP_011517176.1:p.Glu380= | |
| NM_000264.4:c.1140G>A | NP_000255.2:p.Glu380= | |
| NM_001083602.2:c.942G>A | NP_001077071.1:p.Glu314= | |
| NM_001083603.2:c.1137G>A | NP_001077072.1:p.Glu379= | |
| NM_001083604.2:c.687G>A | NP_001077073.1:p.Glu229= | |
| NM_001083605.2:c.687G>A | NP_001077074.1:p.Glu229= | |
| NM_001083606.2:c.687G>A | NP_001077075.1:p.Glu229= | |
| NM_001083607.2:c.687G>A | NP_001077076.1:p.Glu229= | |
| NM_001354918.1:c.1140G>A | NP_001341847.1:p.Glu380= | |
| NR_149061.1:n.1328G>A | ||
| NM_000264.5:c.1140G>A MANE Select | NP_000255.2:p.Glu380= | |
| NM_001083606.3:c.687G>A | NP_001077075.1:p.Glu229= | |
| NM_001354918.2:c.1140G>A | NP_001341847.1:p.Glu380= | |
| NR_149061.2:n.2045G>A | ||
| NM_001083602.3:c.942G>A | NP_001077071.1:p.Glu314= | |
| NM_001083603.3:c.1137G>A MANE Plus Clinical | NP_001077072.1:p.Glu379= | |
| NM_001083604.3:c.687G>A | NP_001077073.1:p.Glu229= | |
| NM_001083605.3:c.687G>A | NP_001077074.1:p.Glu229= | |
| NM_001083607.3:c.687G>A | NP_001077076.1:p.Glu229= |