Linked Data
ClinVar Variation Id:
357038
ClinVar RCV Id:
RCV000308942
dbSNP Id:
rs146753959
gnomAD v2:
6-44267287-C-A
gnomAD v3:
6-44299550-C-A
gnomAD v4:
6-44299550-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44299550C>A , CM000668.2:g.44299550C>A | GRCh38 |
| NC_000006.11:g.44267287C>A , CM000668.1:g.44267287C>A | GRCh37 |
| NC_000006.10:g.44375265C>A | NCBI36 |
| NG_031952.1:g.18777G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.*997G>T (AARS2) MANE Select | ENSP00000244571.4:n.*997G>T | |
| ENST00000438774.2:c.577-7393C>A (TMEM151B) | ENSP00000409337.2:n.577-7393C>A | |
| ENST00000505802.1:c.314-7393C>A | ||
| NM_020745.3:c.*997G>T (AARS2) | NP_065796.1:n.*997G>T | |
| XM_011514764.1:c.2794-1238G>T (AARS2) | XP_011513066.1:n.2794-1238G>T | |
| XM_005249245.3:c.*997G>T (AARS2) | XP_005249302.1:n.*997G>T | |
| XM_011514764.2:c.2794-1238G>T (AARS2) | XP_011513066.1:n.2794-1238G>T | |
| XM_017011112.1:c.*997G>T (AARS2) | XP_016866601.1:n.*997G>T | |
| NM_020745.4:c.*997G>T (AARS2) MANE Select | NP_065796.2:n.*997G>T | |
| NM_001318876.2:c.946-142340C>A (POLR1C) | NP_001305805.1:n.946-142340C>A |