Linked Data
ClinVar Variation Id:
384888
ClinVar RCV Id:
RCV001698145
dbSNP Id:
rs201616927
ExAC:
6:44268956 C / T
gnomAD v2:
6-44268956-C-T
gnomAD v3:
6-44301219-C-T
gnomAD v4:
6-44301219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44301219C>T , CM000668.2:g.44301219C>T | GRCh38 |
| NC_000006.11:g.44268956C>T , CM000668.1:g.44268956C>T | GRCh37 |
| NC_000006.10:g.44376934C>T | NCBI36 |
| NG_031952.1:g.17108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2730G>A (AARS2) MANE Select | ENSP00000244571.4:p.Thr910= | |
| ENST00000244571.4:c.2730G>A (AARS2) | ENSP00000244571.4:p.Thr910= | |
| ENST00000438774.2:c.577-5724C>T (TMEM151B) | ENSP00000409337.2:n.577-5724C>T | |
| ENST00000491573.1:n.88G>A (AARS2) | ||
| ENST00000505802.1:c.314-5724C>T | ||
| NM_020745.3:c.2730G>A (AARS2) | NP_065796.1:p.Thr910= | |
| XM_005249245.2:c.2439G>A (AARS2) | XP_005249302.1:p.Thr813= | |
| XM_011514764.1:c.2730G>A (AARS2) | XP_011513066.1:p.Thr910= | |
| XR_241907.2:n.2655G>A (AARS2) | ||
| XM_005249245.3:c.2439G>A (AARS2) | XP_005249302.1:p.Thr813= | |
| XM_011514764.2:c.2730G>A (AARS2) | XP_011513066.1:p.Thr910= | |
| XM_017011112.1:c.1440G>A (AARS2) | XP_016866601.1:p.Thr480= | |
| NM_020745.4:c.2730G>A (AARS2) MANE Select | NP_065796.2:p.Thr910= | |
| NM_001318876.2:c.946-140671C>T (POLR1C) | NP_001305805.1:n.946-140671C>T |