Linked Data
dbSNP Id:
rs748406230
gnomAD v2:
6-44270181-G-C
gnomAD v3:
6-44302444-G-C
gnomAD v4:
6-44302444-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302444G>C , CM000668.2:g.44302444G>C | GRCh38 |
| NC_000006.11:g.44270181G>C , CM000668.1:g.44270181G>C | GRCh37 |
| NC_000006.10:g.44378159G>C | NCBI36 |
| NG_031952.1:g.15883C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2434C>G (AARS2) MANE Select | ENSP00000244571.4:p.Arg812Gly | |
| ENST00000244571.4:c.2434C>G (AARS2) | ENSP00000244571.4:p.Arg812Gly | |
| ENST00000438774.2:c.577-4499G>C (TMEM151B) | ENSP00000409337.2:n.577-4499G>C | |
| ENST00000505802.1:c.314-4499G>C | ||
| NM_020745.3:c.2434C>G (AARS2) | NP_065796.1:p.Arg812Gly | |
| XM_005249245.2:c.2143C>G (AARS2) | XP_005249302.1:p.Arg715Gly | |
| XM_011514764.1:c.2434C>G (AARS2) | XP_011513066.1:p.Arg812Gly | |
| XR_241907.2:n.2359C>G (AARS2) | ||
| XM_005249245.3:c.2143C>G (AARS2) | XP_005249302.1:p.Arg715Gly | |
| XM_011514764.2:c.2434C>G (AARS2) | XP_011513066.1:p.Arg812Gly | |
| XM_017011112.1:c.1144C>G (AARS2) | XP_016866601.1:p.Arg382Gly | |
| NM_020745.4:c.2434C>G (AARS2) MANE Select | NP_065796.2:p.Arg812Gly | |
| NM_001318876.2:c.946-139446G>C (POLR1C) | NP_001305805.1:n.946-139446G>C |