Linked Data
ClinVar Variation Id:
134636
ClinVar RCV Id:
RCV000121329
RCV000228384
RCV001697144
RCV002321600
RCV002492431
RCV003985274
RCV003595865
dbSNP Id:
rs587778437
ExAC:
X:70351463 C / T
gnomAD v2:
X-70351463-C-T
gnomAD v3:
X-71131613-C-T
gnomAD v4:
X-71131613-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71131613C>T , CM000685.2:g.71131613C>T | GRCh38 |
| NC_000023.10:g.70351463C>T , CM000685.1:g.70351463C>T | GRCh37 |
| NC_000023.9:g.70268188C>T | NCBI36 |
| NG_012808.1:g.18058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.3991C>T | ENSP00000333125.8:p.Pro1331Ser | |
| ENST00000374102.6:c.4111C>T | ENSP00000363215.2:p.Pro1371Ser | |
| ENST00000685182.1:n.293C>T | ||
| ENST00000685655.1:c.64C>T | ENSP00000509298.1:p.Pro22Ser | |
| ENST00000686169.1:n.488C>T | ||
| ENST00000686548.1:c.*4007C>T | ENSP00000509582.1:n.*4007C>T | |
| ENST00000687161.1:n.826C>T | ||
| ENST00000687382.1:c.4111C>T | ENSP00000510724.1:p.Pro1371Ser | |
| ENST00000687701.1:n.289C>T | ||
| ENST00000688079.1:n.2106C>T | ||
| ENST00000688663.1:c.*1032C>T | ENSP00000509348.1:n.*1032C>T | |
| ENST00000688881.1:n.314C>T | ||
| ENST00000688993.1:n.312C>T | ||
| ENST00000689768.1:n.2721C>T | ||
| ENST00000690145.1:c.4111C>T | ENSP00000508818.1:p.Pro1371Ser | |
| ENST00000690242.1:c.4111C>T | ENSP00000510090.1:p.Pro1371Ser | |
| ENST00000690250.1:n.1780C>T | ||
| ENST00000690690.1:c.573-460C>T | ||
| ENST00000690828.1:n.4367C>T | ||
| ENST00000691113.1:c.2590C>T | ENSP00000509755.1:n.2590C>T | |
| ENST00000691283.1:c.659C>T | ||
| ENST00000691426.1:n.3240C>T | ||
| ENST00000691468.1:c.4060C>T | ENSP00000509011.1:p.Pro1354Ser | |
| ENST00000691909.1:n.380C>T | ||
| ENST00000692304.1:c.4111C>T | ENSP00000508427.1:p.Pro1371Ser | |
| ENST00000692893.1:n.1420C>T | ||
| ENST00000692964.1:n.324C>T | ||
| ENST00000693050.1:n.167C>T | ||
| ENST00000693324.1:c.4075C>T | ENSP00000508643.1:p.Pro1359Ser | |
| ENST00000693391.1:c.2056C>T | ENSP00000509563.1:p.Pro686Ser | |
| ENST00000374080.8:c.4111C>T MANE Select | ENSP00000363193.3:p.Pro1371Ser | |
| ENST00000333646.10:c.3652C>T | ENSP00000333125.7:p.Pro1218Ser | |
| ENST00000374080.7:c.4111C>T | ENSP00000363193.3:p.Pro1371Ser | |
| ENST00000374102.5:c.4111C>T | ENSP00000363215.1:p.Pro1371Ser | |
| NM_005120.2:c.4111C>T | NP_005111.2:p.Pro1371Ser | |
| XM_005262317.1:c.4111C>T | XP_005262374.1:p.Pro1371Ser | |
| XM_005262319.1:c.4111C>T | XP_005262376.1:p.Pro1371Ser | |
| NM_005120.3:c.4111C>T MANE Select | NP_005111.2:p.Pro1371Ser |