Linked Data
ClinVar Variation Id:
30941
ClinVar RCV Id:
RCV000023930
dbSNP Id:
rs387907061
ExAC:
6:44279244 A / C
gnomAD v2:
6-44279244-A-C
gnomAD v3:
6-44311507-A-C
gnomAD v4:
6-44311507-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311507A>C , CM000668.2:g.44311507A>C | GRCh38 |
| NC_000006.11:g.44279244A>C , CM000668.1:g.44279244A>C | GRCh37 |
| NC_000006.10:g.44387222A>C | NCBI36 |
| NG_031952.1:g.6820T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244571.5:c.464T>G (AARS2) MANE Select | ENSP00000244571.4:p.Leu155Arg | |
| ENST00000244571.4:c.464T>G (AARS2) | ENSP00000244571.4:p.Leu155Arg | |
| ENST00000505802.1:c.855+3865A>C | ||
| NM_020745.3:c.464T>G (AARS2) | NP_065796.1:p.Leu155Arg | |
| XM_005249245.2:c.464T>G (AARS2) | XP_005249302.1:p.Leu155Arg | |
| XM_011514764.1:c.464T>G (AARS2) | XP_011513066.1:p.Leu155Arg | |
| XR_241907.2:n.499T>G (AARS2) | ||
| XM_005249245.3:c.464T>G (AARS2) | XP_005249302.1:p.Leu155Arg | |
| XM_011514764.2:c.464T>G (AARS2) | XP_011513066.1:p.Leu155Arg | |
| XM_017011112.1:c.-555T>G (AARS2) | XP_016866601.1:n.-555T>G | |
| NM_020745.4:c.464T>G (AARS2) MANE Select | NP_065796.2:p.Leu155Arg | |
| NM_001318876.2:c.946-130383A>C (POLR1C) | NP_001305805.1:n.946-130383A>C |