Linked Data
dbSNP Id:
rs756151860
ExAC:
6:44278884 C / T
gnomAD v2:
6-44278884-C-T
gnomAD v3:
6-44311147-C-T
gnomAD v4:
6-44311147-C-T
COSMIC:
COSM451565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44311147C>T , CM000668.2:g.44311147C>T | GRCh38 |
| NC_000006.11:g.44278884C>T , CM000668.1:g.44278884C>T | GRCh37 |
| NC_000006.10:g.44386862C>T | NCBI36 |
| NG_031952.1:g.7180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.596G>A (AARS2) MANE Select | ENSP00000244571.4:p.Arg199His | |
| ENST00000244571.4:c.596G>A (AARS2) | ENSP00000244571.4:p.Arg199His | |
| ENST00000505802.1:c.855+3505C>T | ||
| NM_020745.3:c.596G>A (AARS2) | NP_065796.1:p.Arg199His | |
| XM_005249245.2:c.596G>A (AARS2) | XP_005249302.1:p.Arg199His | |
| XM_011514764.1:c.596G>A (AARS2) | XP_011513066.1:p.Arg199His | |
| XR_241907.2:n.631G>A (AARS2) | ||
| XM_005249245.3:c.596G>A (AARS2) | XP_005249302.1:p.Arg199His | |
| XM_011514764.2:c.596G>A (AARS2) | XP_011513066.1:p.Arg199His | |
| XM_017011112.1:c.-423G>A (AARS2) | XP_016866601.1:n.-423G>A | |
| NM_020745.4:c.596G>A (AARS2) MANE Select | NP_065796.2:p.Arg199His | |
| NM_001318876.2:c.946-130743C>T (POLR1C) | NP_001305805.1:n.946-130743C>T |