Linked Data
ClinVar Variation Id:
1398055
ClinVar RCV Id:
RCV001922478
dbSNP Id:
rs199677657
ExAC:
6:44269870 C / T
gnomAD v2:
6-44269870-C-T
gnomAD v3:
6-44302133-C-T
gnomAD v4:
6-44302133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302133C>T , CM000668.2:g.44302133C>T | GRCh38 |
| NC_000006.11:g.44269870C>T , CM000668.1:g.44269870C>T | GRCh37 |
| NC_000006.10:g.44377848C>T | NCBI36 |
| NG_031952.1:g.16194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2525G>A (AARS2) MANE Select | ENSP00000244571.4:p.Arg842Gln | |
| ENST00000244571.4:c.2525G>A (AARS2) | ENSP00000244571.4:p.Arg842Gln | |
| ENST00000438774.2:c.577-4810C>T (TMEM151B) | ENSP00000409337.2:n.577-4810C>T | |
| ENST00000505802.1:c.314-4810C>T | ||
| NM_020745.3:c.2525G>A (AARS2) | NP_065796.1:p.Arg842Gln | |
| XM_005249245.2:c.2234G>A (AARS2) | XP_005249302.1:p.Arg745Gln | |
| XM_011514764.1:c.2525G>A (AARS2) | XP_011513066.1:p.Arg842Gln | |
| XR_241907.2:n.2450G>A (AARS2) | ||
| XM_005249245.3:c.2234G>A (AARS2) | XP_005249302.1:p.Arg745Gln | |
| XM_011514764.2:c.2525G>A (AARS2) | XP_011513066.1:p.Arg842Gln | |
| XM_017011112.1:c.1235G>A (AARS2) | XP_016866601.1:p.Arg412Gln | |
| NM_020745.4:c.2525G>A (AARS2) MANE Select | NP_065796.2:p.Arg842Gln | |
| NM_001318876.2:c.946-139757C>T (POLR1C) | NP_001305805.1:n.946-139757C>T |