Linked Data
ClinVar Variation Id:
1414933
ClinVar RCV Id:
RCV001930716
dbSNP Id:
rs750230257
ExAC:
6:44281042 C / G
gnomAD v2:
6-44281042-C-G
gnomAD v4:
6-44313305-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313305C>G , CM000668.2:g.44313305C>G | GRCh38 |
| NC_000006.11:g.44281042C>G , CM000668.1:g.44281042C>G | GRCh37 |
| NC_000006.10:g.44389020C>G | NCBI36 |
| NG_031952.1:g.5022G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.19G>C (AARS2) MANE Select | ENSP00000244571.4:p.Ala7Pro | |
| ENST00000244571.4:c.19G>C (AARS2) | ENSP00000244571.4:p.Ala7Pro | |
| ENST00000505802.1:c.855+5663C>G | ||
| NM_020745.3:c.19G>C (AARS2) | NP_065796.1:p.Ala7Pro | |
| XM_005249245.2:c.19G>C (AARS2) | XP_005249302.1:p.Ala7Pro | |
| XM_011514764.1:c.19G>C (AARS2) | XP_011513066.1:p.Ala7Pro | |
| XR_241907.2:n.54G>C (AARS2) | ||
| XM_005249245.3:c.19G>C (AARS2) | XP_005249302.1:p.Ala7Pro | |
| XM_011514764.2:c.19G>C (AARS2) | XP_011513066.1:p.Ala7Pro | |
| NM_020745.4:c.19G>C (AARS2) MANE Select | NP_065796.2:p.Ala7Pro | |
| NM_001318876.2:c.946-128585C>G (POLR1C) | NP_001305805.1:n.946-128585C>G |