Linked Data
dbSNP Id:
rs377355086
ExAC:
X:18911750 G / T
gnomAD v2:
X-18911750-G-T
gnomAD v3:
X-18893632-G-T
gnomAD v4:
X-18893632-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18893632G>T , CM000685.2:g.18893632G>T | GRCh38 |
| NC_000023.10:g.18911750G>T , CM000685.1:g.18911750G>T | GRCh37 |
| NC_000023.9:g.18821671G>T | NCBI36 |
| NG_016622.1:g.95731C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379942.5:c.3561C>A (PHKA2) MANE Select | ENSP00000369274.4:p.Thr1187= | |
| ENST00000379942.4:c.3561C>A (PHKA2) | ENSP00000369274.4:p.Thr1187= | |
| ENST00000469485.5:n.1286C>A (PHKA2) | ||
| ENST00000473597.1:n.330C>A (PHKA2) | ||
| ENST00000481718.1:n.2455C>A (PHKA2) | ||
| NM_000292.2:c.3561C>A (PHKA2) | NP_000283.1:p.Thr1187= | |
| NR_029379.1:n.467+294G>T (PHKA2-AS1) | ||
| XM_005274548.3:c.3507C>A (PHKA2) | XP_005274605.1:p.Thr1169= | |
| XM_005274550.3:c.3477C>A (PHKA2) | XP_005274607.1:p.Thr1159= | |
| XM_006724496.2:c.3585C>A (PHKA2) | XP_006724559.1:p.Thr1195= | |
| XM_006724498.2:c.3039C>A (PHKA2) | XP_006724561.1:p.Thr1013= | |
| XM_011545537.1:c.3486C>A (PHKA2) | XP_011543839.1:p.Thr1162= | |
| XM_011545538.1:c.2568C>A (PHKA2) | XP_011543840.1:p.Thr856= | |
| XM_005274548.5:c.3507C>A (PHKA2) | XP_005274605.1:p.Thr1169= | |
| XM_005274550.5:c.3477C>A (PHKA2) | XP_005274607.1:p.Thr1159= | |
| XM_006724496.4:c.3585C>A (PHKA2) | XP_006724559.1:p.Thr1195= | |
| XM_006724498.4:c.3039C>A (PHKA2) | XP_006724561.1:p.Thr1013= | |
| XM_011545537.3:c.3486C>A (PHKA2) | XP_011543839.1:p.Thr1162= | |
| XM_011545538.3:c.2568C>A (PHKA2) | XP_011543840.1:p.Thr856= | |
| XM_017029580.2:c.2679C>A (PHKA2) | XP_016885069.1:p.Thr893= | |
| XR_001755698.2:n.5689C>A (PHKA2) | ||
| NM_000292.3:c.3561C>A (PHKA2) MANE Select | NP_000283.1:p.Thr1187= |