Linked Data
ClinVar Variation Id:
143047
dbSNP Id:
rs543267101
ExAC:
6:44268349 C / T
gnomAD v2:
6-44268349-C-T
gnomAD v3:
6-44300612-C-T
gnomAD v4:
6-44300612-C-T
PubMed:
PMID:24808023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44300612C>T , CM000668.2:g.44300612C>T | GRCh38 |
| NC_000006.11:g.44268349C>T , CM000668.1:g.44268349C>T | GRCh37 |
| NC_000006.10:g.44376327C>T | NCBI36 |
| NG_031952.1:g.17715G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.2893G>A (AARS2) MANE Select | ENSP00000244571.4:p.Gly965Arg | |
| ENST00000244571.4:c.2893G>A (AARS2) | ENSP00000244571.4:p.Gly965Arg | |
| ENST00000438774.2:c.577-6331C>T (TMEM151B) | ENSP00000409337.2:n.577-6331C>T | |
| ENST00000491573.1:n.695G>A (AARS2) | ||
| ENST00000505802.1:c.314-6331C>T | ||
| NM_020745.3:c.2893G>A (AARS2) | NP_065796.1:p.Gly965Arg | |
| XM_005249245.2:c.2602G>A (AARS2) | XP_005249302.1:p.Gly868Arg | |
| XM_011514764.1:c.2793+544G>A (AARS2) | XP_011513066.1:n.2793+544G>A | |
| XR_241907.2:n.2818G>A (AARS2) | ||
| XM_005249245.3:c.2602G>A (AARS2) | XP_005249302.1:p.Gly868Arg | |
| XM_011514764.2:c.2793+544G>A (AARS2) | XP_011513066.1:n.2793+544G>A | |
| XM_017011112.1:c.1603G>A (AARS2) | XP_016866601.1:p.Gly535Arg | |
| NM_020745.4:c.2893G>A (AARS2) MANE Select | NP_065796.2:p.Gly965Arg | |
| NM_001318876.2:c.946-141278C>T (POLR1C) | NP_001305805.1:n.946-141278C>T |