Linked Data
ClinVar Variation Id:
213972
ClinVar RCV Id:
RCV000198697
dbSNP Id:
rs763868546
ExAC:
6:44268430 T / G
gnomAD v2:
6-44268430-T-G
gnomAD v3:
6-44300693-T-G
gnomAD v4:
6-44300693-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44300693T>G , CM000668.2:g.44300693T>G | GRCh38 |
| NC_000006.11:g.44268430T>G , CM000668.1:g.44268430T>G | GRCh37 |
| NC_000006.10:g.44376408T>G | NCBI36 |
| NG_031952.1:g.17634A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2812A>C (AARS2) MANE Select | ENSP00000244571.4:p.Thr938Pro | |
| ENST00000244571.4:c.2812A>C (AARS2) | ENSP00000244571.4:p.Thr938Pro | |
| ENST00000438774.2:c.577-6250T>G (TMEM151B) | ENSP00000409337.2:n.577-6250T>G | |
| ENST00000491573.1:n.614A>C (AARS2) | ||
| ENST00000505802.1:c.314-6250T>G | ||
| NM_020745.3:c.2812A>C (AARS2) | NP_065796.1:p.Thr938Pro | |
| XM_005249245.2:c.2521A>C (AARS2) | XP_005249302.1:p.Thr841Pro | |
| XM_011514764.1:c.2793+463A>C (AARS2) | XP_011513066.1:n.2793+463A>C | |
| XR_241907.2:n.2737A>C (AARS2) | ||
| XM_005249245.3:c.2521A>C (AARS2) | XP_005249302.1:p.Thr841Pro | |
| XM_011514764.2:c.2793+463A>C (AARS2) | XP_011513066.1:n.2793+463A>C | |
| XM_017011112.1:c.1522A>C (AARS2) | XP_016866601.1:p.Thr508Pro | |
| NM_020745.4:c.2812A>C (AARS2) MANE Select | NP_065796.2:p.Thr938Pro | |
| NM_001318876.2:c.946-141197T>G (POLR1C) | NP_001305805.1:n.946-141197T>G |