Linked Data
ClinVar Variation Id:
100057
ClinVar RCV Id:
RCV000011086
RCV000011087
RCV000011088
RCV000079409
RCV000179363
RCV000445579
RCV000477810
RCV000623137
RCV000761429
RCV001250219
RCV001265539
RCV001528124
RCV002227060
dbSNP Id:
rs5030868
ExAC:
X:153762634 G / A
gnomAD v2:
X-153762634-G-A
gnomAD v3:
X-154534419-G-A
gnomAD v4:
X-154534419-G-A
PubMed:
PMID:1551674
PMID:1972698
PMID:1978555
PMID:2503817
PMID:2633878
PMID:3393536
PMID:4974311
PMID:5305539
PMID:5369703
PMID:6698555
PMID:7203486
PMID:7283560
PMID:9342374
PMID:9427729
PMID:11445808
PMID:12768444
PMID:14278484
PMID:15315792
PMID:15502081
PMID:15735168
PMID:18177777
PMID:19594365
PMID:22906047
PMID:23479361
PMID:23891399
PMID:24586352
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154534419G>A , CM000685.2:g.154534419G>A | GRCh38 |
| NC_000023.10:g.153762634G>A , CM000685.1:g.153762634G>A | GRCh37 |
| NC_000023.9:g.153415828G>A | NCBI36 |
| NG_009015.2:g.18154C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.563C>T | ENSP00000377194.2:p.Ser188Phe | |
| ENST00000439227.6:c.566C>T | ENSP00000395599.2:p.Ser189Phe | |
| ENST00000696420.1:c.563C>T | ENSP00000512615.1:p.Ser188Phe | |
| ENST00000696421.1:c.563C>T | ENSP00000512616.1:p.Ser188Phe | |
| ENST00000696422.1:c.426C>T | ||
| ENST00000696423.1:c.429C>T | ||
| ENST00000696424.1:c.443C>T | ENSP00000512619.1:p.Ser148Phe | |
| ENST00000696425.1:c.563C>T | ENSP00000512620.1:p.Ser188Phe | |
| ENST00000696426.1:c.563C>T | ENSP00000512621.1:p.Ser188Phe | |
| ENST00000696427.1:c.563C>T | ENSP00000512622.1:p.Ser188Phe | |
| ENST00000696428.1:c.*405C>T | ENSP00000512623.1:n.*405C>T | |
| ENST00000696429.1:c.563C>T | ENSP00000512624.1:p.Ser188Phe | |
| ENST00000696430.1:c.563C>T | ENSP00000512625.1:p.Ser188Phe | |
| ENST00000393562.10:c.563C>T MANE Select | ENSP00000377192.3:p.Ser188Phe | |
| ENST00000369620.6:c.563C>T | ENSP00000358633.2:p.Ser188Phe | |
| ENST00000393562.6:c.653C>T | ENSP00000377192.2:p.Ser218Phe | |
| ENST00000393564.6:c.563C>T | ENSP00000377194.2:p.Ser188Phe | |
| ENST00000433845.1:c.563C>T | ENSP00000394690.1:p.Ser188Phe | |
| ENST00000439227.5:c.566C>T | ENSP00000395599.1:p.Ser189Phe | |
| ENST00000440967.5:c.566C>T | ENSP00000400648.1:p.Ser189Phe | |
| ENST00000621232.4:c.563C>T | ENSP00000483686.1:p.Ser188Phe | |
| NM_000402.4:c.653C>T | NP_000393.4:p.Ser218Phe | |
| NM_001042351.2:c.563C>T | NP_001035810.1:p.Ser188Phe | |
| XM_005274657.2:c.656C>T | XP_005274714.1:p.Ser219Phe | |
| XM_005274658.2:c.566C>T | XP_005274715.1:p.Ser189Phe | |
| XM_011531132.1:c.656C>T | XP_011529434.1:p.Ser219Phe | |
| NM_001360016.2:c.563C>T MANE Select | NP_001346945.1:p.Ser188Phe | |
| NM_001042351.3:c.563C>T | NP_001035810.1:p.Ser188Phe |