Linked Data
ClinVar Variation Id:
2700296
ClinVar RCV Id:
RCV003547160
gnomAD v4:
19-17872601-G-A
MyVariant Identifiers:
chr19:g.17983410G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17872601G>A , CM000681.2:g.17872601G>A | GRCh38 |
| NC_000019.9:g.17983410G>A , CM000681.1:g.17983410G>A | GRCh37 |
| NC_000019.8:g.17844410G>A | NCBI36 |
| NG_012930.1:g.5629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.282G>A MANE Select | ENSP00000222248.2:p.Gln94= | |
| ENST00000222248.3:c.282G>A | ENSP00000222248.2:p.Gln94= | |
| NM_000453.2:c.282G>A | NP_000444.1:p.Gln94= | |
| XM_011528192.1:c.282G>A | XP_011526494.1:p.Gln94= | |
| XM_011528193.1:c.15G>A | XP_011526495.1:p.Gln5= | |
| XM_011528192.2:c.282G>A | XP_011526494.1:p.Gln94= | |
| XM_011528193.3:c.15G>A | XP_011526495.1:p.Gln5= | |
| XM_017027158.1:c.15G>A | XP_016882647.1:p.Gln5= | |
| NM_000453.3:c.282G>A MANE Select | NP_000444.1:p.Gln94= |