Linked Data
dbSNP Id:
rs769476666
ExAC:
6:44281092 A / G
gnomAD v2:
6-44281092-A-G
gnomAD v4:
6-44313355-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313355A>G , CM000668.2:g.44313355A>G | GRCh38 |
| NC_000006.11:g.44281092A>G , CM000668.1:g.44281092A>G | GRCh37 |
| NC_000006.10:g.44389070A>G | NCBI36 |
| NG_031952.1:g.4972T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5713A>G | ||
| XM_005249245.2:c.-32T>C (AARS2) | XP_005249302.1:n.-32T>C | |
| XM_011514764.1:c.-32T>C (AARS2) | XP_011513066.1:n.-32T>C | |
| XR_241907.2:n.4T>C (AARS2) | ||
| XM_005249245.3:c.-32T>C (AARS2) | XP_005249302.1:n.-32T>C | |
| XM_011514764.2:c.-32T>C (AARS2) | XP_011513066.1:n.-32T>C | |
| NM_001318876.2:c.946-128535A>G (POLR1C) | NP_001305805.1:n.946-128535A>G |