Linked Data
ClinVar Variation Id:
217713
ClinVar RCV Id:
RCV000201544
dbSNP Id:
rs863225228
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93787884C>T , CM000670.2:g.93787884C>T | GRCh38 |
| NC_000008.10:g.94800112C>T , CM000670.1:g.94800112C>T | GRCh37 |
| NC_000008.9:g.94869288C>T | NCBI36 |
| NG_009190.1:g.38041C>T , LRG_688:g.38041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1453C>T | ENSP00000314488.4:p.Pro485Ser | |
| ENST00000409623.8:c.1408C>T | ENSP00000386966.4:p.Pro470Ser | |
| ENST00000452276.6:c.1453C>T | ENSP00000388671.2:p.Pro485Ser | |
| ENST00000453906.6:c.571C>T | ENSP00000403035.2:p.Pro191Ser | |
| ENST00000520680.2:c.1453C>T | ENSP00000428785.2:p.Pro485Ser | |
| ENST00000521517.6:c.1453C>T | ENSP00000430740.2:p.Pro485Ser | |
| ENST00000681998.1:c.1274C>T | ENSP00000506773.1:n.1274C>T | |
| ENST00000682036.1:c.571C>T | ENSP00000508390.1:p.Pro191Ser | |
| ENST00000682577.1:c.1226C>T | ENSP00000506963.1:n.1226C>T | |
| ENST00000682624.1:c.*1027C>T | ENSP00000508343.1:n.*1027C>T | |
| ENST00000682700.1:c.1453C>T | ENSP00000507627.1:p.Pro485Ser | |
| ENST00000682744.1:n.991C>T | ||
| ENST00000682804.1:n.1276C>T | ||
| ENST00000682837.1:c.942C>T | ENSP00000507920.1:n.942C>T | |
| ENST00000682935.1:n.3503C>T | ||
| ENST00000682984.1:c.1114C>T | ENSP00000507209.1:p.Pro372Ser | |
| ENST00000683078.1:c.1208C>T | ENSP00000506796.1:n.1208C>T | |
| ENST00000683223.1:c.1185C>T | ENSP00000507685.1:n.1185C>T | |
| ENST00000683238.1:n.2677C>T | ||
| ENST00000683249.1:n.3050C>T | ||
| ENST00000683336.1:c.1274C>T | ENSP00000507695.1:n.1274C>T | |
| ENST00000683362.1:c.1114C>T | ENSP00000506985.1:p.Pro372Ser | |
| ENST00000683850.1:n.1376C>T | ||
| ENST00000683919.1:c.1383C>T | ENSP00000507617.1:n.1383C>T | |
| ENST00000683953.1:c.1364C>T | ENSP00000508375.1:n.1364C>T | |
| ENST00000684023.1:c.1430C>T | ENSP00000507461.1:n.1430C>T | |
| ENST00000684064.1:c.1144C>T | ENSP00000508192.1:p.Pro382Ser | |
| ENST00000684089.1:n.3003C>T | ||
| ENST00000684149.1:c.*632C>T | ENSP00000507943.1:n.*632C>T | |
| ENST00000684416.1:n.1412C>T | ||
| ENST00000684540.1:c.1383C>T | ENSP00000507987.1:n.1383C>T | |
| ENST00000453321.8:c.1453C>T MANE Select | ENSP00000389998.3:p.Pro485Ser | |
| ENST00000323130.7:c.1423C>T | ENSP00000314488.3:p.Pro475Ser | |
| ENST00000409623.7:c.1210C>T | ENSP00000386966.3:p.Pro404Ser | |
| ENST00000452276.5:c.1144C>T | ENSP00000388671.1:p.Pro382Ser | |
| ENST00000453321.7:c.1453C>T | ENSP00000389998.3:p.Pro485Ser | |
| ENST00000474944.5:n.591C>T | ||
| ENST00000520680.1:c.275C>T | ||
| NM_001142301.1:c.1210C>T , LRG_688t2:c.1210C>T | NP_001135773.1:p.Pro404Ser | |
| NM_153704.5:c.1453C>T , LRG_688t1:c.1453C>T | NP_714915.3:p.Pro485Ser | |
| NR_024522.1:n.1524C>T | ||
| XM_006716686.2:c.1150C>T | XP_006716749.1:p.Pro384Ser | |
| XM_006716687.2:c.853C>T | XP_006716750.1:p.Pro285Ser | |
| XM_011517363.1:c.571C>T | XP_011515665.1:p.Pro191Ser | |
| XR_428387.1:n.1511C>T | ||
| XR_928360.1:n.1511C>T | ||
| XR_928361.1:n.1511C>T | ||
| XR_928362.1:n.1511C>T | ||
| XM_006716686.4:c.1150C>T | XP_006716749.1:p.Pro384Ser | |
| XM_011517363.3:c.571C>T | XP_011515665.1:p.Pro191Ser | |
| XM_024447326.1:c.799C>T | XP_024303094.1:p.Pro267Ser | |
| XR_001745619.2:n.1494C>T | ||
| XR_428387.2:n.1494C>T | ||
| XR_928360.3:n.1494C>T | ||
| XR_928362.3:n.1494C>T | ||
| NM_153704.6:c.1453C>T MANE Select | NP_714915.3:p.Pro485Ser | |
| NR_024522.2:n.1474C>T |