Linked Data
dbSNP Id:
rs748453047
ExAC:
X:18911701 C / G
gnomAD v2:
X-18911701-C-G
gnomAD v4:
X-18893583-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18893583C>G , CM000685.2:g.18893583C>G | GRCh38 |
| NC_000023.10:g.18911701C>G , CM000685.1:g.18911701C>G | GRCh37 |
| NC_000023.9:g.18821622C>G | NCBI36 |
| NG_016622.1:g.95780G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379942.5:c.3610G>C (PHKA2) MANE Select | ENSP00000369274.4:p.Ala1204Pro | |
| ENST00000379942.4:c.3610G>C (PHKA2) | ENSP00000369274.4:p.Ala1204Pro | |
| ENST00000469485.5:n.1335G>C (PHKA2) | ||
| ENST00000473597.1:n.379G>C (PHKA2) | ||
| ENST00000481718.1:n.2504G>C (PHKA2) | ||
| NM_000292.2:c.3610G>C (PHKA2) | NP_000283.1:p.Ala1204Pro | |
| NR_029379.1:n.467+245C>G (PHKA2-AS1) | ||
| XM_005274548.3:c.3556G>C (PHKA2) | XP_005274605.1:p.Ala1186Pro | |
| XM_005274550.3:c.3526G>C (PHKA2) | XP_005274607.1:p.Ala1176Pro | |
| XM_006724496.2:c.3634G>C (PHKA2) | XP_006724559.1:p.Ala1212Pro | |
| XM_006724498.2:c.3088G>C (PHKA2) | XP_006724561.1:p.Ala1030Pro | |
| XM_011545537.1:c.3535G>C (PHKA2) | XP_011543839.1:p.Ala1179Pro | |
| XM_011545538.1:c.2617G>C (PHKA2) | XP_011543840.1:p.Ala873Pro | |
| XM_005274548.5:c.3556G>C (PHKA2) | XP_005274605.1:p.Ala1186Pro | |
| XM_005274550.5:c.3526G>C (PHKA2) | XP_005274607.1:p.Ala1176Pro | |
| XM_006724496.4:c.3634G>C (PHKA2) | XP_006724559.1:p.Ala1212Pro | |
| XM_006724498.4:c.3088G>C (PHKA2) | XP_006724561.1:p.Ala1030Pro | |
| XM_011545537.3:c.3535G>C (PHKA2) | XP_011543839.1:p.Ala1179Pro | |
| XM_011545538.3:c.2617G>C (PHKA2) | XP_011543840.1:p.Ala873Pro | |
| XM_017029580.2:c.2728G>C (PHKA2) | XP_016885069.1:p.Ala910Pro | |
| XR_001755698.2:n.5738G>C (PHKA2) | ||
| NM_000292.3:c.3610G>C (PHKA2) MANE Select | NP_000283.1:p.Ala1204Pro |