Linked Data
ClinVar Variation Id:
3138433
ClinVar RCV Id:
RCV004432810
dbSNP Id:
rs570367042
ExAC:
6:44281033 G / C
gnomAD v2:
6-44281033-G-C
gnomAD v3:
6-44313296-G-C
gnomAD v4:
6-44313296-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313296G>C , CM000668.2:g.44313296G>C | GRCh38 |
| NC_000006.11:g.44281033G>C , CM000668.1:g.44281033G>C | GRCh37 |
| NC_000006.10:g.44389011G>C | NCBI36 |
| NG_031952.1:g.5031C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.28C>G (AARS2) MANE Select | ENSP00000244571.4:p.Arg10Gly | |
| ENST00000244571.4:c.28C>G (AARS2) | ENSP00000244571.4:p.Arg10Gly | |
| ENST00000505802.1:c.855+5654G>C | ||
| NM_020745.3:c.28C>G (AARS2) | NP_065796.1:p.Arg10Gly | |
| XM_005249245.2:c.28C>G (AARS2) | XP_005249302.1:p.Arg10Gly | |
| XM_011514764.1:c.28C>G (AARS2) | XP_011513066.1:p.Arg10Gly | |
| XR_241907.2:n.63C>G (AARS2) | ||
| XM_005249245.3:c.28C>G (AARS2) | XP_005249302.1:p.Arg10Gly | |
| XM_011514764.2:c.28C>G (AARS2) | XP_011513066.1:p.Arg10Gly | |
| NM_020745.4:c.28C>G (AARS2) MANE Select | NP_065796.2:p.Arg10Gly | |
| NM_001318876.2:c.946-128594G>C (POLR1C) | NP_001305805.1:n.946-128594G>C |