Linked Data
ClinVar Variation Id:
1366359
ClinVar RCV Id:
RCV001962039
dbSNP Id:
rs148429504
ExAC:
6:44268957 G / C
gnomAD v2:
6-44268957-G-C
gnomAD v3:
6-44301220-G-C
gnomAD v4:
6-44301220-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44301220G>C , CM000668.2:g.44301220G>C | GRCh38 |
| NC_000006.11:g.44268957G>C , CM000668.1:g.44268957G>C | GRCh37 |
| NC_000006.10:g.44376935G>C | NCBI36 |
| NG_031952.1:g.17107C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2729C>G (AARS2) MANE Select | ENSP00000244571.4:p.Thr910Arg | |
| ENST00000244571.4:c.2729C>G (AARS2) | ENSP00000244571.4:p.Thr910Arg | |
| ENST00000438774.2:c.577-5723G>C (TMEM151B) | ENSP00000409337.2:n.577-5723G>C | |
| ENST00000491573.1:n.87C>G (AARS2) | ||
| ENST00000505802.1:c.314-5723G>C | ||
| NM_020745.3:c.2729C>G (AARS2) | NP_065796.1:p.Thr910Arg | |
| XM_005249245.2:c.2438C>G (AARS2) | XP_005249302.1:p.Thr813Arg | |
| XM_011514764.1:c.2729C>G (AARS2) | XP_011513066.1:p.Thr910Arg | |
| XR_241907.2:n.2654C>G (AARS2) | ||
| XM_005249245.3:c.2438C>G (AARS2) | XP_005249302.1:p.Thr813Arg | |
| XM_011514764.2:c.2729C>G (AARS2) | XP_011513066.1:p.Thr910Arg | |
| XM_017011112.1:c.1439C>G (AARS2) | XP_016866601.1:p.Thr480Arg | |
| NM_020745.4:c.2729C>G (AARS2) MANE Select | NP_065796.2:p.Thr910Arg | |
| NM_001318876.2:c.946-140670G>C (POLR1C) | NP_001305805.1:n.946-140670G>C |