Linked Data
ClinVar Variation Id:
559279
ClinVar RCV Id:
RCV000676731
dbSNP Id:
rs766876544
ExAC:
6:44280914 G / A
gnomAD v2:
6-44280914-G-A
gnomAD v3:
6-44313177-G-A
gnomAD v4:
6-44313177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313177G>A , CM000668.2:g.44313177G>A | GRCh38 |
| NC_000006.11:g.44280914G>A , CM000668.1:g.44280914G>A | GRCh37 |
| NC_000006.10:g.44388892G>A | NCBI36 |
| NG_031952.1:g.5150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244571.5:c.147C>T (AARS2) MANE Select | ENSP00000244571.4:p.Phe49= | |
| ENST00000244571.4:c.147C>T (AARS2) | ENSP00000244571.4:p.Phe49= | |
| ENST00000505802.1:c.855+5535G>A | ||
| NM_020745.3:c.147C>T (AARS2) | NP_065796.1:p.Phe49= | |
| XM_005249245.2:c.147C>T (AARS2) | XP_005249302.1:p.Phe49= | |
| XM_011514764.1:c.147C>T (AARS2) | XP_011513066.1:p.Phe49= | |
| XR_241907.2:n.182C>T (AARS2) | ||
| XM_005249245.3:c.147C>T (AARS2) | XP_005249302.1:p.Phe49= | |
| XM_011514764.2:c.147C>T (AARS2) | XP_011513066.1:p.Phe49= | |
| XM_017011112.1:c.-872C>T (AARS2) | XP_016866601.1:n.-872C>T | |
| NM_020745.4:c.147C>T (AARS2) MANE Select | NP_065796.2:p.Phe49= | |
| NM_001318876.2:c.946-128713G>A (POLR1C) | NP_001305805.1:n.946-128713G>A |