Linked Data
ClinVar Variation Id:
143045
ClinVar RCV Id:
RCV000132553
dbSNP Id:
rs587777590
gnomAD v4:
6-44313175-A-C
PubMed:
PMID:24808023
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313175A>C , CM000668.2:g.44313175A>C | GRCh38 |
| NC_000006.11:g.44280912A>C , CM000668.1:g.44280912A>C | GRCh37 |
| NC_000006.10:g.44388890A>C | NCBI36 |
| NG_031952.1:g.5152T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.149T>G (AARS2) MANE Select | ENSP00000244571.4:p.Phe50Cys | |
| ENST00000244571.4:c.149T>G (AARS2) | ENSP00000244571.4:p.Phe50Cys | |
| ENST00000505802.1:c.855+5533A>C | ||
| NM_020745.3:c.149T>G (AARS2) | NP_065796.1:p.Phe50Cys | |
| XM_005249245.2:c.149T>G (AARS2) | XP_005249302.1:p.Phe50Cys | |
| XM_011514764.1:c.149T>G (AARS2) | XP_011513066.1:p.Phe50Cys | |
| XR_241907.2:n.184T>G (AARS2) | ||
| XM_005249245.3:c.149T>G (AARS2) | XP_005249302.1:p.Phe50Cys | |
| XM_011514764.2:c.149T>G (AARS2) | XP_011513066.1:p.Phe50Cys | |
| XM_017011112.1:c.-870T>G (AARS2) | XP_016866601.1:n.-870T>G | |
| NM_020745.4:c.149T>G (AARS2) MANE Select | NP_065796.2:p.Phe50Cys | |
| NM_001318876.2:c.946-128715A>C (POLR1C) | NP_001305805.1:n.946-128715A>C |