Linked Data
ClinVar Variation Id:
300471
dbSNP Id:
rs768198017
ExAC:
10:73571102 G / A
gnomAD v2:
10-73571102-G-A
gnomAD v3:
10-71811345-G-A
gnomAD v4:
10-71811345-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71811345G>A , CM000672.2:g.71811345G>A | GRCh38 |
| NC_000010.10:g.73571102G>A , CM000672.1:g.73571102G>A | GRCh37 |
| NC_000010.9:g.73241108G>A | NCBI36 |
| NG_008835.1:g.419399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9108G>A MANE Select | ENSP00000224721.9:p.Glu3036= | |
| ENST00000642965.1:c.3041G>A | ENSP00000495222.1:n.3041G>A | |
| ENST00000647092.1:c.2705G>A | ENSP00000495176.1:n.2705G>A | |
| ENST00000224721.10:c.9123G>A | ENSP00000224721.8:p.Glu3041= | |
| ENST00000398788.4:c.2388G>A | ENSP00000381768.3:p.Glu796= | |
| ENST00000475158.1:n.2644G>A | ||
| ENST00000619887.4:c.2388G>A | ENSP00000478374.1:p.Glu796= | |
| ENST00000622827.4:c.9108G>A | ENSP00000483211.1:p.Glu3036= | |
| NM_001171933.1:c.2388G>A | NP_001165404.1:p.Glu796= | |
| NM_001171934.1:c.2388G>A | NP_001165405.1:p.Glu796= | |
| NM_022124.5:c.9108G>A | NP_071407.4:p.Glu3036= | |
| XM_006717940.2:c.9303G>A | XP_006718003.1:p.Glu3101= | |
| XM_006717942.2:c.9237G>A | XP_006718005.1:p.Glu3079= | |
| XM_011540039.1:c.9300G>A | XP_011538341.1:p.Glu3100= | |
| XM_011540040.1:c.9297G>A | XP_011538342.1:p.Glu3099= | |
| XM_011540041.1:c.9243G>A | XP_011538343.1:p.Glu3081= | |
| XM_011540042.1:c.9213G>A | XP_011538344.1:p.Glu3071= | |
| XM_011540043.1:c.9303G>A | XP_011538345.1:p.Glu3101= | |
| XM_011540044.1:c.9168G>A | XP_011538346.1:p.Glu3056= | |
| XM_011540045.1:c.9303G>A | XP_011538347.1:p.Glu3101= | |
| XM_011540046.1:c.8763G>A | XP_011538348.1:p.Glu2921= | |
| XM_011540047.1:c.8121G>A | XP_011538349.1:p.Glu2707= | |
| XM_011540052.1:c.5631G>A | XP_011538354.1:p.Glu1877= | |
| NM_022124.6:c.9108G>A MANE Select | NP_071407.4:p.Glu3036= |