Linked Data
ClinVar Variation Id:
1909515
ClinVar RCV Id:
RCV002587445
dbSNP Id:
rs1363208008
gnomAD v2:
8-94792863-T-G
gnomAD v3:
8-93780635-T-G
gnomAD v4:
8-93780635-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780635T>G , CM000670.2:g.93780635T>G | GRCh38 |
| NC_000008.10:g.94792863T>G , CM000670.1:g.94792863T>G | GRCh37 |
| NC_000008.9:g.94862039T>G | NCBI36 |
| NG_009190.1:g.30792T>G , LRG_688:g.30792T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.757T>G | ENSP00000314488.4:p.Cys253Gly | |
| ENST00000409623.8:c.757T>G | ENSP00000386966.4:p.Cys253Gly | |
| ENST00000452276.6:c.757T>G | ENSP00000388671.2:p.Cys253Gly | |
| ENST00000453906.6:c.407-5588T>G | ENSP00000403035.2:n.407-5588T>G | |
| ENST00000520680.2:c.757T>G | ENSP00000428785.2:p.Cys253Gly | |
| ENST00000521065.2:c.*474T>G | ENSP00000427947.2:n.*474T>G | |
| ENST00000521517.6:c.757T>G | ENSP00000430740.2:p.Cys253Gly | |
| ENST00000681998.1:c.687T>G | ENSP00000506773.1:n.687T>G | |
| ENST00000682036.1:c.407-5588T>G | ENSP00000508390.1:n.407-5588T>G | |
| ENST00000682577.1:c.687T>G | ENSP00000506963.1:n.687T>G | |
| ENST00000682624.1:c.*331T>G | ENSP00000508343.1:n.*331T>G | |
| ENST00000682700.1:c.757T>G | ENSP00000507627.1:p.Cys253Gly | |
| ENST00000682744.1:n.295T>G | ||
| ENST00000682804.1:n.580T>G | ||
| ENST00000682837.1:c.512T>G | ENSP00000507920.1:p.Val171Gly | |
| ENST00000682935.1:n.2317T>G | ||
| ENST00000682984.1:c.418T>G | ENSP00000507209.1:p.Cys140Gly | |
| ENST00000683078.1:c.512T>G | ENSP00000506796.1:p.Val171Gly | |
| ENST00000683223.1:c.598T>G | ENSP00000507685.1:n.598T>G | |
| ENST00000683238.1:n.2138T>G | ||
| ENST00000683249.1:n.2338T>G | ||
| ENST00000683336.1:c.687T>G | ENSP00000507695.1:n.687T>G | |
| ENST00000683362.1:c.418T>G | ENSP00000506985.1:p.Cys140Gly | |
| ENST00000683850.1:n.680T>G | ||
| ENST00000683919.1:c.687T>G | ENSP00000507617.1:n.687T>G | |
| ENST00000683953.1:c.668T>G | ENSP00000508375.1:n.668T>G | |
| ENST00000684023.1:c.891T>G | ENSP00000507461.1:n.891T>G | |
| ENST00000684064.1:c.448T>G | ENSP00000508192.1:p.Cys150Gly | |
| ENST00000684089.1:n.2307T>G | ||
| ENST00000684149.1:c.*93T>G | ENSP00000507943.1:n.*93T>G | |
| ENST00000684416.1:n.716T>G | ||
| ENST00000684540.1:c.687T>G | ENSP00000507987.1:n.687T>G | |
| ENST00000453321.8:c.757T>G MANE Select | ENSP00000389998.3:p.Cys253Gly | |
| ENST00000323130.7:c.727T>G | ENSP00000314488.3:p.Cys243Gly | |
| ENST00000409623.7:c.514T>G | ENSP00000386966.3:p.Cys172Gly | |
| ENST00000425545.2:n.204T>G | ||
| ENST00000452276.5:c.448T>G | ENSP00000388671.1:p.Cys150Gly | |
| ENST00000453321.7:c.757T>G | ENSP00000389998.3:p.Cys253Gly | |
| ENST00000453906.5:c.407-5588T>G | ENSP00000403035.1:n.407-5588T>G | |
| ENST00000474944.5:n.427-5588T>G | ||
| ENST00000496213.5:n.222T>G | ||
| NM_001142301.1:c.514T>G , LRG_688t2:c.514T>G | NP_001135773.1:p.Cys172Gly | |
| NM_153704.5:c.757T>G , LRG_688t1:c.757T>G | NP_714915.3:p.Cys253Gly | |
| NR_024522.1:n.828T>G | ||
| XM_006716686.2:c.454T>G | XP_006716749.1:p.Cys152Gly | |
| XM_006716687.2:c.157T>G | XP_006716750.1:p.Cys53Gly | |
| XM_011517363.1:c.407-5588T>G | XP_011515665.1:n.407-5588T>G | |
| XR_428387.1:n.815T>G | ||
| XR_928360.1:n.815T>G | ||
| XR_928361.1:n.815T>G | ||
| XR_928362.1:n.815T>G | ||
| XM_006716686.4:c.454T>G | XP_006716749.1:p.Cys152Gly | |
| XM_011517363.3:c.407-5588T>G | XP_011515665.1:n.407-5588T>G | |
| XM_024447326.1:c.103T>G | XP_024303094.1:p.Cys35Gly | |
| XR_001745619.2:n.798T>G | ||
| XR_428387.2:n.798T>G | ||
| XR_928360.3:n.798T>G | ||
| XR_928362.3:n.798T>G | ||
| NM_153704.6:c.757T>G MANE Select | NP_714915.3:p.Cys253Gly | |
| NR_024522.2:n.778T>G |