Linked Data
ClinVar Variation Id:
2637686
ClinVar RCV Id:
RCV003404984
dbSNP Id:
rs201884669
ExAC:
X:18911767 T / C
gnomAD v3:
X-18893649-T-C
gnomAD v4:
X-18893649-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18893649T>C , CM000685.2:g.18893649T>C | GRCh38 |
| NC_000023.10:g.18911767T>C , CM000685.1:g.18911767T>C | GRCh37 |
| NC_000023.9:g.18821688T>C | NCBI36 |
| NG_016622.1:g.95714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379942.5:c.3544A>G (PHKA2) MANE Select | ENSP00000369274.4:p.Ile1182Val | |
| ENST00000379942.4:c.3544A>G (PHKA2) | ENSP00000369274.4:p.Ile1182Val | |
| ENST00000469485.5:n.1269A>G (PHKA2) | ||
| ENST00000473597.1:n.313A>G (PHKA2) | ||
| ENST00000481718.1:n.2438A>G (PHKA2) | ||
| NM_000292.2:c.3544A>G (PHKA2) | NP_000283.1:p.Ile1182Val | |
| NR_029379.1:n.467+311T>C (PHKA2-AS1) | ||
| XM_005274548.3:c.3490A>G (PHKA2) | XP_005274605.1:p.Ile1164Val | |
| XM_005274550.3:c.3460A>G (PHKA2) | XP_005274607.1:p.Ile1154Val | |
| XM_006724496.2:c.3568A>G (PHKA2) | XP_006724559.1:p.Ile1190Val | |
| XM_006724498.2:c.3022A>G (PHKA2) | XP_006724561.1:p.Ile1008Val | |
| XM_011545537.1:c.3469A>G (PHKA2) | XP_011543839.1:p.Ile1157Val | |
| XM_011545538.1:c.2551A>G (PHKA2) | XP_011543840.1:p.Ile851Val | |
| XM_005274548.5:c.3490A>G (PHKA2) | XP_005274605.1:p.Ile1164Val | |
| XM_005274550.5:c.3460A>G (PHKA2) | XP_005274607.1:p.Ile1154Val | |
| XM_006724496.4:c.3568A>G (PHKA2) | XP_006724559.1:p.Ile1190Val | |
| XM_006724498.4:c.3022A>G (PHKA2) | XP_006724561.1:p.Ile1008Val | |
| XM_011545537.3:c.3469A>G (PHKA2) | XP_011543839.1:p.Ile1157Val | |
| XM_011545538.3:c.2551A>G (PHKA2) | XP_011543840.1:p.Ile851Val | |
| XM_017029580.2:c.2662A>G (PHKA2) | XP_016885069.1:p.Ile888Val | |
| XR_001755698.2:n.5672A>G (PHKA2) | ||
| NM_000292.3:c.3544A>G (PHKA2) MANE Select | NP_000283.1:p.Ile1182Val |