Linked Data
ClinVar Variation Id:
280559
ClinVar RCV Id:
RCV000384046
dbSNP Id:
rs768351915
ExAC:
6:44269796 C / A
gnomAD v2:
6-44269796-C-A
gnomAD v3:
6-44302059-C-A
gnomAD v4:
6-44302059-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302059C>A , CM000668.2:g.44302059C>A | GRCh38 |
| NC_000006.11:g.44269796C>A , CM000668.1:g.44269796C>A | GRCh37 |
| NC_000006.10:g.44377774C>A | NCBI36 |
| NG_031952.1:g.16268G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.2598+1G>T (AARS2) MANE Select | ENSP00000244571.4:n.2598+1G>T | |
| ENST00000244571.4:c.2598+1G>T (AARS2) | ENSP00000244571.4:n.2598+1G>T | |
| ENST00000438774.2:c.577-4884C>A (TMEM151B) | ENSP00000409337.2:n.577-4884C>A | |
| ENST00000505802.1:c.314-4884C>A | ||
| NM_020745.3:c.2598+1G>T (AARS2) | NP_065796.1:n.2598+1G>T | |
| XM_005249245.2:c.2307+1G>T (AARS2) | XP_005249302.1:n.2307+1G>T | |
| XM_011514764.1:c.2598+1G>T (AARS2) | XP_011513066.1:n.2598+1G>T | |
| XR_241907.2:n.2523+1G>T (AARS2) | ||
| XM_005249245.3:c.2307+1G>T (AARS2) | XP_005249302.1:n.2307+1G>T | |
| XM_011514764.2:c.2598+1G>T (AARS2) | XP_011513066.1:n.2598+1G>T | |
| XM_017011112.1:c.1308+1G>T (AARS2) | XP_016866601.1:n.1308+1G>T | |
| NM_020745.4:c.2598+1G>T (AARS2) MANE Select | NP_065796.2:n.2598+1G>T | |
| NM_001318876.2:c.946-139831C>A (POLR1C) | NP_001305805.1:n.946-139831C>A |