Linked Data
dbSNP Id:
rs768227245
ExAC:
6:44281088 G / C
gnomAD v2:
6-44281088-G-C
gnomAD v4:
6-44313351-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313351G>C , CM000668.2:g.44313351G>C | GRCh38 |
| NC_000006.11:g.44281088G>C , CM000668.1:g.44281088G>C | GRCh37 |
| NC_000006.10:g.44389066G>C | NCBI36 |
| NG_031952.1:g.4976C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5709G>C | ||
| XM_005249245.2:c.-28C>G (AARS2) | XP_005249302.1:n.-28C>G | |
| XM_011514764.1:c.-28C>G (AARS2) | XP_011513066.1:n.-28C>G | |
| XR_241907.2:n.8C>G (AARS2) | ||
| XM_005249245.3:c.-28C>G (AARS2) | XP_005249302.1:n.-28C>G | |
| XM_011514764.2:c.-28C>G (AARS2) | XP_011513066.1:n.-28C>G | |
| NM_001318876.2:c.946-128539G>C (POLR1C) | NP_001305805.1:n.946-128539G>C |