Linked Data
gnomAD v4:
6-44313350-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313350G>T , CM000668.2:g.44313350G>T | GRCh38 |
| NC_000006.11:g.44281087G>T , CM000668.1:g.44281087G>T | GRCh37 |
| NC_000006.10:g.44389065G>T | NCBI36 |
| NG_031952.1:g.4977C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5708G>T | ||
| XM_005249245.2:c.-27C>A (AARS2) | XP_005249302.1:n.-27C>A | |
| XM_011514764.1:c.-27C>A (AARS2) | XP_011513066.1:n.-27C>A | |
| XR_241907.2:n.9C>A (AARS2) | ||
| XM_005249245.3:c.-27C>A (AARS2) | XP_005249302.1:n.-27C>A | |
| XM_011514764.2:c.-27C>A (AARS2) | XP_011513066.1:n.-27C>A | |
| NM_001318876.2:c.946-128540G>T (POLR1C) | NP_001305805.1:n.946-128540G>T |