Linked Data
ClinVar Variation Id:
2438705
ClinVar RCV Id:
RCV003139457
dbSNP Id:
rs138828031
ExAC:
6:44270171 G / A
gnomAD v2:
6-44270171-G-A
gnomAD v3:
6-44302434-G-A
gnomAD v4:
6-44302434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302434G>A , CM000668.2:g.44302434G>A | GRCh38 |
| NC_000006.11:g.44270171G>A , CM000668.1:g.44270171G>A | GRCh37 |
| NC_000006.10:g.44378149G>A | NCBI36 |
| NG_031952.1:g.15893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2444C>T (AARS2) MANE Select | ENSP00000244571.4:p.Ala815Val | |
| ENST00000244571.4:c.2444C>T (AARS2) | ENSP00000244571.4:p.Ala815Val | |
| ENST00000438774.2:c.577-4509G>A (TMEM151B) | ENSP00000409337.2:n.577-4509G>A | |
| ENST00000505802.1:c.314-4509G>A | ||
| NM_020745.3:c.2444C>T (AARS2) | NP_065796.1:p.Ala815Val | |
| XM_005249245.2:c.2153C>T (AARS2) | XP_005249302.1:p.Ala718Val | |
| XM_011514764.1:c.2444C>T (AARS2) | XP_011513066.1:p.Ala815Val | |
| XR_241907.2:n.2369C>T (AARS2) | ||
| XM_005249245.3:c.2153C>T (AARS2) | XP_005249302.1:p.Ala718Val | |
| XM_011514764.2:c.2444C>T (AARS2) | XP_011513066.1:p.Ala815Val | |
| XM_017011112.1:c.1154C>T (AARS2) | XP_016866601.1:p.Ala385Val | |
| NM_020745.4:c.2444C>T (AARS2) MANE Select | NP_065796.2:p.Ala815Val | |
| NM_001318876.2:c.946-139456G>A (POLR1C) | NP_001305805.1:n.946-139456G>A |