Linked Data
ClinVar Variation Id:
213971
dbSNP Id:
rs775065697
ExAC:
6:44270896 A / G
gnomAD v2:
6-44270896-A-G
gnomAD v3:
6-44303159-A-G
gnomAD v4:
6-44303159-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44303159A>G , CM000668.2:g.44303159A>G | GRCh38 |
| NC_000006.11:g.44270896A>G , CM000668.1:g.44270896A>G | GRCh37 |
| NC_000006.10:g.44378874A>G | NCBI36 |
| NG_031952.1:g.15168T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.2162T>C (AARS2) MANE Select | ENSP00000244571.4:p.Val721Ala | |
| ENST00000244571.4:c.2162T>C (AARS2) | ENSP00000244571.4:p.Val721Ala | |
| ENST00000438774.2:c.577-3784A>G (TMEM151B) | ENSP00000409337.2:n.577-3784A>G | |
| ENST00000505802.1:c.314-3784A>G | ||
| NM_020745.3:c.2162T>C (AARS2) | NP_065796.1:p.Val721Ala | |
| XM_005249245.2:c.1871T>C (AARS2) | XP_005249302.1:p.Val624Ala | |
| XM_011514764.1:c.2162T>C (AARS2) | XP_011513066.1:p.Val721Ala | |
| XR_241907.2:n.2180+127T>C (AARS2) | ||
| XM_005249245.3:c.1871T>C (AARS2) | XP_005249302.1:p.Val624Ala | |
| XM_011514764.2:c.2162T>C (AARS2) | XP_011513066.1:p.Val721Ala | |
| XM_017011112.1:c.872T>C (AARS2) | XP_016866601.1:p.Val291Ala | |
| NM_020745.4:c.2162T>C (AARS2) MANE Select | NP_065796.2:p.Val721Ala | |
| NM_001318876.2:c.946-138731A>G (POLR1C) | NP_001305805.1:n.946-138731A>G |