Linked Data
ClinVar Variation Id:
30940
dbSNP Id:
rs138119149
ExAC:
6:44272249 G / A
gnomAD v2:
6-44272249-G-A
gnomAD v3:
6-44304512-G-A
gnomAD v4:
6-44304512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44304512G>A , CM000668.2:g.44304512G>A | GRCh38 |
| NC_000006.11:g.44272249G>A , CM000668.1:g.44272249G>A | GRCh37 |
| NC_000006.10:g.44380227G>A | NCBI36 |
| NG_031952.1:g.13815C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.1774C>T (AARS2) MANE Select | ENSP00000244571.4:p.Arg592Trp | |
| ENST00000244571.4:c.1774C>T (AARS2) | ENSP00000244571.4:p.Arg592Trp | |
| ENST00000438774.2:c.577-2431G>A (TMEM151B) | ENSP00000409337.2:n.577-2431G>A | |
| ENST00000505802.1:c.314-2431G>A | ||
| NM_020745.3:c.1774C>T (AARS2) | NP_065796.1:p.Arg592Trp | |
| XM_005249245.2:c.1483C>T (AARS2) | XP_005249302.1:p.Arg495Trp | |
| XM_011514764.1:c.1774C>T (AARS2) | XP_011513066.1:p.Arg592Trp | |
| XR_241907.2:n.1809C>T (AARS2) | ||
| XM_005249245.3:c.1483C>T (AARS2) | XP_005249302.1:p.Arg495Trp | |
| XM_011514764.2:c.1774C>T (AARS2) | XP_011513066.1:p.Arg592Trp | |
| XM_017011112.1:c.484C>T (AARS2) | XP_016866601.1:p.Arg162Trp | |
| NM_020745.4:c.1774C>T (AARS2) MANE Select | NP_065796.2:p.Arg592Trp | |
| NM_001318876.2:c.946-137378G>A (POLR1C) | NP_001305805.1:n.946-137378G>A |