Linked Data
dbSNP Id:
rs752360698
ExAC:
6:44270145 T / C
gnomAD v2:
6-44270145-T-C
gnomAD v4:
6-44302408-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44302408T>C , CM000668.2:g.44302408T>C | GRCh38 |
| NC_000006.11:g.44270145T>C , CM000668.1:g.44270145T>C | GRCh37 |
| NC_000006.10:g.44378123T>C | NCBI36 |
| NG_031952.1:g.15919A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.2470A>G (AARS2) MANE Select | ENSP00000244571.4:p.Ile824Val | |
| ENST00000244571.4:c.2470A>G (AARS2) | ENSP00000244571.4:p.Ile824Val | |
| ENST00000438774.2:c.577-4535T>C (TMEM151B) | ENSP00000409337.2:n.577-4535T>C | |
| ENST00000505802.1:c.314-4535T>C | ||
| NM_020745.3:c.2470A>G (AARS2) | NP_065796.1:p.Ile824Val | |
| XM_005249245.2:c.2179A>G (AARS2) | XP_005249302.1:p.Ile727Val | |
| XM_011514764.1:c.2470A>G (AARS2) | XP_011513066.1:p.Ile824Val | |
| XR_241907.2:n.2395A>G (AARS2) | ||
| XM_005249245.3:c.2179A>G (AARS2) | XP_005249302.1:p.Ile727Val | |
| XM_011514764.2:c.2470A>G (AARS2) | XP_011513066.1:p.Ile824Val | |
| XM_017011112.1:c.1180A>G (AARS2) | XP_016866601.1:p.Ile394Val | |
| NM_020745.4:c.2470A>G (AARS2) MANE Select | NP_065796.2:p.Ile824Val | |
| NM_001318876.2:c.946-139482T>C (POLR1C) | NP_001305805.1:n.946-139482T>C |