Linked Data
ClinVar Variation Id:
1204750
dbSNP Id:
rs146765163
ExAC:
6:44270144 A / G
gnomAD v2:
6-44270144-A-G
gnomAD v3:
6-44302407-A-G
gnomAD v4:
6-44302407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302407A>G , CM000668.2:g.44302407A>G | GRCh38 |
| NC_000006.11:g.44270144A>G , CM000668.1:g.44270144A>G | GRCh37 |
| NC_000006.10:g.44378122A>G | NCBI36 |
| NG_031952.1:g.15920T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2471T>C (AARS2) MANE Select | ENSP00000244571.4:p.Ile824Thr | |
| ENST00000244571.4:c.2471T>C (AARS2) | ENSP00000244571.4:p.Ile824Thr | |
| ENST00000438774.2:c.577-4536A>G (TMEM151B) | ENSP00000409337.2:n.577-4536A>G | |
| ENST00000505802.1:c.314-4536A>G | ||
| NM_020745.3:c.2471T>C (AARS2) | NP_065796.1:p.Ile824Thr | |
| XM_005249245.2:c.2180T>C (AARS2) | XP_005249302.1:p.Ile727Thr | |
| XM_011514764.1:c.2471T>C (AARS2) | XP_011513066.1:p.Ile824Thr | |
| XR_241907.2:n.2396T>C (AARS2) | ||
| XM_005249245.3:c.2180T>C (AARS2) | XP_005249302.1:p.Ile727Thr | |
| XM_011514764.2:c.2471T>C (AARS2) | XP_011513066.1:p.Ile824Thr | |
| XM_017011112.1:c.1181T>C (AARS2) | XP_016866601.1:p.Ile394Thr | |
| NM_020745.4:c.2471T>C (AARS2) MANE Select | NP_065796.2:p.Ile824Thr | |
| NM_001318876.2:c.946-139483A>G (POLR1C) | NP_001305805.1:n.946-139483A>G |