Linked Data
ClinVar Variation Id:
46065
dbSNP Id:
rs376497158
ExAC:
10:73570264 G / A
gnomAD v2:
10-73570264-G-A
gnomAD v3:
10-71810507-G-A
gnomAD v4:
10-71810507-G-A
PubMed:
PMID:12075507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71810507G>A , CM000672.2:g.71810507G>A | GRCh38 |
| NC_000010.10:g.73570264G>A , CM000672.1:g.73570264G>A | GRCh37 |
| NC_000010.9:g.73240270G>A | NCBI36 |
| NG_008835.1:g.418561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9015G>A MANE Select | ENSP00000224721.9:p.Ala3005= | |
| ENST00000642965.1:c.2948G>A | ENSP00000495222.1:n.2948G>A | |
| ENST00000647092.1:c.2612G>A | ENSP00000495176.1:n.2612G>A | |
| ENST00000224721.10:c.9030G>A | ENSP00000224721.8:p.Ala3010= | |
| ENST00000398788.4:c.2295G>A | ENSP00000381768.3:p.Ala765= | |
| ENST00000475158.1:n.2551G>A | ||
| ENST00000619887.4:c.2295G>A | ENSP00000478374.1:p.Ala765= | |
| ENST00000622827.4:c.9015G>A | ENSP00000483211.1:p.Ala3005= | |
| NM_001171933.1:c.2295G>A | NP_001165404.1:p.Ala765= | |
| NM_001171934.1:c.2295G>A | NP_001165405.1:p.Ala765= | |
| NM_022124.5:c.9015G>A | NP_071407.4:p.Ala3005= | |
| XM_006717940.2:c.9210G>A | XP_006718003.1:p.Ala3070= | |
| XM_006717942.2:c.9144G>A | XP_006718005.1:p.Ala3048= | |
| XM_011540039.1:c.9207G>A | XP_011538341.1:p.Ala3069= | |
| XM_011540040.1:c.9204G>A | XP_011538342.1:p.Ala3068= | |
| XM_011540041.1:c.9150G>A | XP_011538343.1:p.Ala3050= | |
| XM_011540042.1:c.9120G>A | XP_011538344.1:p.Ala3040= | |
| XM_011540043.1:c.9210G>A | XP_011538345.1:p.Ala3070= | |
| XM_011540044.1:c.9075G>A | XP_011538346.1:p.Ala3025= | |
| XM_011540045.1:c.9210G>A | XP_011538347.1:p.Ala3070= | |
| XM_011540046.1:c.8670G>A | XP_011538348.1:p.Ala2890= | |
| XM_011540047.1:c.8028G>A | XP_011538349.1:p.Ala2676= | |
| XM_011540052.1:c.5538G>A | XP_011538354.1:p.Ala1846= | |
| NM_022124.6:c.9015G>A MANE Select | NP_071407.4:p.Ala3005= |