Linked Data
dbSNP Id:
rs774633030
gnomAD v2:
8-94784839-G-C
gnomAD v3:
8-93772611-G-C
gnomAD v4:
8-93772611-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93772611G>C , CM000670.2:g.93772611G>C | GRCh38 |
| NC_000008.10:g.94784839G>C , CM000670.1:g.94784839G>C | GRCh37 |
| NC_000008.9:g.94854015G>C | NCBI36 |
| NG_009190.1:g.22768G>C , LRG_688:g.22768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.674G>C | ENSP00000314488.4:p.Trp225Ser | |
| ENST00000409623.8:c.674G>C | ENSP00000386966.4:p.Trp225Ser | |
| ENST00000452276.6:c.674G>C | ENSP00000388671.2:p.Trp225Ser | |
| ENST00000453906.6:c.407-13612G>C | ENSP00000403035.2:n.407-13612G>C | |
| ENST00000520680.2:c.674G>C | ENSP00000428785.2:p.Trp225Ser | |
| ENST00000521065.2:c.*391G>C | ENSP00000427947.2:n.*391G>C | |
| ENST00000521517.6:c.674G>C | ENSP00000430740.2:p.Trp225Ser | |
| ENST00000681998.1:c.604G>C | ENSP00000506773.1:n.604G>C | |
| ENST00000682036.1:c.407-13612G>C | ENSP00000508390.1:n.407-13612G>C | |
| ENST00000682577.1:c.604G>C | ENSP00000506963.1:n.604G>C | |
| ENST00000682624.1:c.*248G>C | ENSP00000508343.1:n.*248G>C | |
| ENST00000682700.1:c.674G>C | ENSP00000507627.1:p.Trp225Ser | |
| ENST00000682804.1:n.497G>C | ||
| ENST00000682837.1:c.429G>C | ENSP00000507920.1:p.Met143Ile | |
| ENST00000682935.1:n.2234G>C | ||
| ENST00000682984.1:c.335G>C | ENSP00000507209.1:p.Trp112Ser | |
| ENST00000683078.1:c.429G>C | ENSP00000506796.1:p.Met143Ile | |
| ENST00000683223.1:c.515G>C | ENSP00000507685.1:n.515G>C | |
| ENST00000683238.1:n.2055G>C | ||
| ENST00000683249.1:n.2255G>C | ||
| ENST00000683336.1:c.604G>C | ENSP00000507695.1:n.604G>C | |
| ENST00000683362.1:c.335G>C | ENSP00000506985.1:p.Trp112Ser | |
| ENST00000683850.1:n.597G>C | ||
| ENST00000683919.1:c.604G>C | ENSP00000507617.1:n.604G>C | |
| ENST00000683953.1:c.585G>C | ENSP00000508375.1:n.585G>C | |
| ENST00000684023.1:c.808G>C | ENSP00000507461.1:n.808G>C | |
| ENST00000684064.1:c.365G>C | ENSP00000508192.1:p.Trp122Ser | |
| ENST00000684089.1:n.2224G>C | ||
| ENST00000684149.1:c.*10G>C | ENSP00000507943.1:n.*10G>C | |
| ENST00000684416.1:n.633G>C | ||
| ENST00000684540.1:c.604G>C | ENSP00000507987.1:n.604G>C | |
| ENST00000453321.8:c.674G>C MANE Select | ENSP00000389998.3:p.Trp225Ser | |
| ENST00000323130.7:c.644G>C | ENSP00000314488.3:p.Trp215Ser | |
| ENST00000409623.7:c.431G>C | ENSP00000386966.3:p.Trp144Ser | |
| ENST00000425545.2:n.121G>C | ||
| ENST00000452276.5:c.365G>C | ENSP00000388671.1:p.Trp122Ser | |
| ENST00000453321.7:c.674G>C | ENSP00000389998.3:p.Trp225Ser | |
| ENST00000453906.5:c.407-13612G>C | ENSP00000403035.1:n.407-13612G>C | |
| ENST00000474944.5:n.427-13612G>C | ||
| ENST00000496213.5:n.139G>C | ||
| NM_001142301.1:c.431G>C , LRG_688t2:c.431G>C | NP_001135773.1:p.Trp144Ser | |
| NM_153704.5:c.674G>C , LRG_688t1:c.674G>C | NP_714915.3:p.Trp225Ser | |
| NR_024522.1:n.745G>C | ||
| XM_006716686.2:c.371G>C | XP_006716749.1:p.Trp124Ser | |
| XM_006716687.2:c.74G>C | XP_006716750.1:p.Trp25Ser | |
| XM_011517363.1:c.407-13612G>C | XP_011515665.1:n.407-13612G>C | |
| XR_428387.1:n.732G>C | ||
| XR_928360.1:n.732G>C | ||
| XR_928361.1:n.732G>C | ||
| XR_928362.1:n.732G>C | ||
| XM_006716686.4:c.371G>C | XP_006716749.1:p.Trp124Ser | |
| XM_011517363.3:c.407-13612G>C | XP_011515665.1:n.407-13612G>C | |
| XM_024447326.1:c.20G>C | XP_024303094.1:p.Trp7Ser | |
| XR_001745619.2:n.715G>C | ||
| XR_428387.2:n.715G>C | ||
| XR_928360.3:n.715G>C | ||
| XR_928362.3:n.715G>C | ||
| NM_153704.6:c.674G>C MANE Select | NP_714915.3:p.Trp225Ser | |
| NR_024522.2:n.695G>C |