Linked Data
dbSNP Id:
rs772791308
ExAC:
6:44281094 G / A
gnomAD v3:
6-44313357-G-A
gnomAD v4:
6-44313357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313357G>A , CM000668.2:g.44313357G>A | GRCh38 |
| NC_000006.11:g.44281094G>A , CM000668.1:g.44281094G>A | GRCh37 |
| NC_000006.10:g.44389072G>A | NCBI36 |
| NG_031952.1:g.4970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5715G>A | ||
| XM_005249245.2:c.-34C>T (AARS2) | XP_005249302.1:n.-34C>T | |
| XM_011514764.1:c.-34C>T (AARS2) | XP_011513066.1:n.-34C>T | |
| XR_241907.2:n.2C>T (AARS2) | ||
| XM_005249245.3:c.-34C>T (AARS2) | XP_005249302.1:n.-34C>T | |
| XM_011514764.2:c.-34C>T (AARS2) | XP_011513066.1:n.-34C>T | |
| NM_001318876.2:c.946-128533G>A (POLR1C) | NP_001305805.1:n.946-128533G>A |