Linked Data
ClinVar Variation Id:
1381
dbSNP Id:
rs267607115
gnomAD v2:
8-94807731-T-C
gnomAD v3:
8-93795503-T-C
gnomAD v4:
8-93795503-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93795503T>C , CM000670.2:g.93795503T>C | GRCh38 |
| NC_000008.10:g.94807731T>C , CM000670.1:g.94807731T>C | GRCh37 |
| NC_000008.9:g.94876907T>C | NCBI36 |
| NG_009190.1:g.45660T>C , LRG_688:g.45660T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1769T>C | ENSP00000314488.4:p.Phe590Ser | |
| ENST00000409623.8:c.1724T>C | ENSP00000386966.4:p.Phe575Ser | |
| ENST00000452276.6:c.1769T>C | ENSP00000388671.2:p.Phe590Ser | |
| ENST00000453906.6:c.887T>C | ENSP00000403035.2:p.Phe296Ser | |
| ENST00000518896.2:c.35T>C | ENSP00000507992.1:p.Phe12Ser | |
| ENST00000520680.2:c.1892T>C | ENSP00000428785.2:p.Phe631Ser | |
| ENST00000521517.6:c.1675-398T>C | ENSP00000430740.2:n.1675-398T>C | |
| ENST00000681998.1:c.1590T>C | ENSP00000506773.1:n.1590T>C | |
| ENST00000682036.1:c.1010T>C | ENSP00000508390.1:p.Phe337Ser | |
| ENST00000682577.1:c.1542T>C | ENSP00000506963.1:n.1542T>C | |
| ENST00000682624.1:c.*1343T>C | ENSP00000508343.1:n.*1343T>C | |
| ENST00000682700.1:c.1769T>C | ENSP00000507627.1:p.Phe590Ser | |
| ENST00000682744.1:n.1307T>C | ||
| ENST00000682804.1:n.1592T>C | ||
| ENST00000682837.1:c.1258T>C | ENSP00000507920.1:n.1258T>C | |
| ENST00000682935.1:n.3819T>C | ||
| ENST00000682984.1:c.1430T>C | ENSP00000507209.1:p.Phe477Ser | |
| ENST00000683078.1:c.1524T>C | ENSP00000506796.1:n.1524T>C | |
| ENST00000683223.1:c.1501T>C | ENSP00000507685.1:n.1501T>C | |
| ENST00000683238.1:n.2993T>C | ||
| ENST00000683249.1:n.3366T>C | ||
| ENST00000683336.1:c.1590T>C | ENSP00000507695.1:n.1590T>C | |
| ENST00000683362.1:c.1430T>C | ENSP00000506985.1:p.Phe477Ser | |
| ENST00000683850.1:n.1692T>C | ||
| ENST00000683919.1:c.1699T>C | ENSP00000507617.1:n.1699T>C | |
| ENST00000683953.1:c.1680T>C | ENSP00000508375.1:n.1680T>C | |
| ENST00000684023.1:c.1746T>C | ENSP00000507461.1:n.1746T>C | |
| ENST00000684064.1:c.1460T>C | ENSP00000508192.1:p.Phe487Ser | |
| ENST00000684089.1:n.3319T>C | ||
| ENST00000684149.1:c.*948T>C | ENSP00000507943.1:n.*948T>C | |
| ENST00000684343.1:c.-35T>C | ENSP00000507591.1:n.-35T>C | |
| ENST00000684416.1:n.1728T>C | ||
| ENST00000684540.1:c.1699T>C | ENSP00000507987.1:n.1699T>C | |
| ENST00000453321.8:c.1769T>C MANE Select | ENSP00000389998.3:p.Phe590Ser | |
| ENST00000323130.7:c.1739T>C | ENSP00000314488.3:p.Phe580Ser | |
| ENST00000409623.7:c.1526T>C | ENSP00000386966.3:p.Phe509Ser | |
| ENST00000453321.7:c.1769T>C | ENSP00000389998.3:p.Phe590Ser | |
| ENST00000474944.5:n.907T>C | ||
| ENST00000519845.5:n.501T>C | ||
| ENST00000520680.1:c.714T>C | ||
| ENST00000523230.5:n.304T>C | ||
| NM_001142301.1:c.1526T>C , LRG_688t2:c.1526T>C | NP_001135773.1:p.Phe509Ser | |
| NM_153704.5:c.1769T>C , LRG_688t1:c.1769T>C | NP_714915.3:p.Phe590Ser | |
| NR_024522.1:n.1840T>C | ||
| XM_006716686.2:c.1466T>C | XP_006716749.1:p.Phe489Ser | |
| XM_006716687.2:c.1169T>C | XP_006716750.1:p.Phe390Ser | |
| XM_011517363.1:c.887T>C | XP_011515665.1:p.Phe296Ser | |
| XR_428387.1:n.1827T>C | ||
| XR_928360.1:n.1827T>C | ||
| XR_928361.1:n.1827T>C | ||
| XR_928362.1:n.1827T>C | ||
| XM_006716686.4:c.1466T>C | XP_006716749.1:p.Phe489Ser | |
| XM_011517363.3:c.887T>C | XP_011515665.1:p.Phe296Ser | |
| XM_024447326.1:c.1115T>C | XP_024303094.1:p.Phe372Ser | |
| XR_001745619.2:n.1810T>C | ||
| XR_428387.2:n.1810T>C | ||
| XR_928360.3:n.1810T>C | ||
| XR_928362.3:n.1810T>C | ||
| NM_153704.6:c.1769T>C MANE Select | NP_714915.3:p.Phe590Ser | |
| NR_024522.2:n.1790T>C |