Linked Data
ClinVar Variation Id:
357055
dbSNP Id:
rs325008
ExAC:
6:44268371 T / C
gnomAD v2:
6-44268371-T-C
gnomAD v3:
6-44300634-T-C
gnomAD v4:
6-44300634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44300634T>C , CM000668.2:g.44300634T>C | GRCh38 |
| NC_000006.11:g.44268371T>C , CM000668.1:g.44268371T>C | GRCh37 |
| NC_000006.10:g.44376349T>C | NCBI36 |
| NG_031952.1:g.17693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2871A>G (AARS2) MANE Select | ENSP00000244571.4:p.Ser957= | |
| ENST00000244571.4:c.2871A>G (AARS2) | ENSP00000244571.4:p.Ser957= | |
| ENST00000438774.2:c.577-6309T>C (TMEM151B) | ENSP00000409337.2:n.577-6309T>C | |
| ENST00000491573.1:n.673A>G (AARS2) | ||
| ENST00000505802.1:c.314-6309T>C | ||
| NM_020745.3:c.2871A>G (AARS2) | NP_065796.1:p.Ser957= | |
| XM_005249245.2:c.2580A>G (AARS2) | XP_005249302.1:p.Ser860= | |
| XM_011514764.1:c.2793+522A>G (AARS2) | XP_011513066.1:n.2793+522A>G | |
| XR_241907.2:n.2796A>G (AARS2) | ||
| XM_005249245.3:c.2580A>G (AARS2) | XP_005249302.1:p.Ser860= | |
| XM_011514764.2:c.2793+522A>G (AARS2) | XP_011513066.1:n.2793+522A>G | |
| XM_017011112.1:c.1581A>G (AARS2) | XP_016866601.1:p.Ser527= | |
| NM_020745.4:c.2871A>G (AARS2) MANE Select | NP_065796.2:p.Ser957= | |
| NM_001318876.2:c.946-141256T>C (POLR1C) | NP_001305805.1:n.946-141256T>C |