Linked Data
dbSNP Id:
rs746403563
ExAC:
6:44281086 T / C
gnomAD v2:
6-44281086-T-C
gnomAD v4:
6-44313349-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313349T>C , CM000668.2:g.44313349T>C | GRCh38 |
| NC_000006.11:g.44281086T>C , CM000668.1:g.44281086T>C | GRCh37 |
| NC_000006.10:g.44389064T>C | NCBI36 |
| NG_031952.1:g.4978A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5707T>C | ||
| XM_005249245.2:c.-26A>G (AARS2) | XP_005249302.1:n.-26A>G | |
| XM_011514764.1:c.-26A>G (AARS2) | XP_011513066.1:n.-26A>G | |
| XR_241907.2:n.10A>G (AARS2) | ||
| XM_005249245.3:c.-26A>G (AARS2) | XP_005249302.1:n.-26A>G | |
| XM_011514764.2:c.-26A>G (AARS2) | XP_011513066.1:n.-26A>G | |
| NM_001318876.2:c.946-128541T>C (POLR1C) | NP_001305805.1:n.946-128541T>C |