Linked Data
dbSNP Id:
rs762691893
ExAC:
8:94792869 A / C
gnomAD v2:
8-94792869-A-C
gnomAD v4:
8-93780641-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780641A>C , CM000670.2:g.93780641A>C | GRCh38 |
| NC_000008.10:g.94792869A>C , CM000670.1:g.94792869A>C | GRCh37 |
| NC_000008.9:g.94862045A>C | NCBI36 |
| NG_009190.1:g.30798A>C , LRG_688:g.30798A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.763A>C | ENSP00000314488.4:p.Met255Leu | |
| ENST00000409623.8:c.763A>C | ENSP00000386966.4:p.Met255Leu | |
| ENST00000452276.6:c.763A>C | ENSP00000388671.2:p.Met255Leu | |
| ENST00000453906.6:c.407-5582A>C | ENSP00000403035.2:n.407-5582A>C | |
| ENST00000520680.2:c.763A>C | ENSP00000428785.2:p.Met255Leu | |
| ENST00000521065.2:c.*480A>C | ENSP00000427947.2:n.*480A>C | |
| ENST00000521517.6:c.763A>C | ENSP00000430740.2:p.Met255Leu | |
| ENST00000681998.1:c.693A>C | ENSP00000506773.1:n.693A>C | |
| ENST00000682036.1:c.407-5582A>C | ENSP00000508390.1:n.407-5582A>C | |
| ENST00000682577.1:c.693A>C | ENSP00000506963.1:n.693A>C | |
| ENST00000682624.1:c.*337A>C | ENSP00000508343.1:n.*337A>C | |
| ENST00000682700.1:c.763A>C | ENSP00000507627.1:p.Met255Leu | |
| ENST00000682744.1:n.301A>C | ||
| ENST00000682804.1:n.586A>C | ||
| ENST00000682837.1:c.518A>C | ENSP00000507920.1:p.Asp173Ala | |
| ENST00000682935.1:n.2323A>C | ||
| ENST00000682984.1:c.424A>C | ENSP00000507209.1:p.Met142Leu | |
| ENST00000683078.1:c.518A>C | ENSP00000506796.1:p.Asp173Ala | |
| ENST00000683223.1:c.604A>C | ENSP00000507685.1:n.604A>C | |
| ENST00000683238.1:n.2144A>C | ||
| ENST00000683249.1:n.2344A>C | ||
| ENST00000683336.1:c.693A>C | ENSP00000507695.1:n.693A>C | |
| ENST00000683362.1:c.424A>C | ENSP00000506985.1:p.Met142Leu | |
| ENST00000683850.1:n.686A>C | ||
| ENST00000683919.1:c.693A>C | ENSP00000507617.1:n.693A>C | |
| ENST00000683953.1:c.674A>C | ENSP00000508375.1:n.674A>C | |
| ENST00000684023.1:c.897A>C | ENSP00000507461.1:n.897A>C | |
| ENST00000684064.1:c.454A>C | ENSP00000508192.1:p.Met152Leu | |
| ENST00000684089.1:n.2313A>C | ||
| ENST00000684149.1:c.*99A>C | ENSP00000507943.1:n.*99A>C | |
| ENST00000684416.1:n.722A>C | ||
| ENST00000684540.1:c.693A>C | ENSP00000507987.1:n.693A>C | |
| ENST00000453321.8:c.763A>C MANE Select | ENSP00000389998.3:p.Met255Leu | |
| ENST00000323130.7:c.733A>C | ENSP00000314488.3:p.Met245Leu | |
| ENST00000409623.7:c.520A>C | ENSP00000386966.3:p.Met174Leu | |
| ENST00000425545.2:n.210A>C | ||
| ENST00000452276.5:c.454A>C | ENSP00000388671.1:p.Met152Leu | |
| ENST00000453321.7:c.763A>C | ENSP00000389998.3:p.Met255Leu | |
| ENST00000453906.5:c.407-5582A>C | ENSP00000403035.1:n.407-5582A>C | |
| ENST00000474944.5:n.427-5582A>C | ||
| ENST00000496213.5:n.228A>C | ||
| NM_001142301.1:c.520A>C , LRG_688t2:c.520A>C | NP_001135773.1:p.Met174Leu | |
| NM_153704.5:c.763A>C , LRG_688t1:c.763A>C | NP_714915.3:p.Met255Leu | |
| NR_024522.1:n.834A>C | ||
| XM_006716686.2:c.460A>C | XP_006716749.1:p.Met154Leu | |
| XM_006716687.2:c.163A>C | XP_006716750.1:p.Met55Leu | |
| XM_011517363.1:c.407-5582A>C | XP_011515665.1:n.407-5582A>C | |
| XR_428387.1:n.821A>C | ||
| XR_928360.1:n.821A>C | ||
| XR_928361.1:n.821A>C | ||
| XR_928362.1:n.821A>C | ||
| XM_006716686.4:c.460A>C | XP_006716749.1:p.Met154Leu | |
| XM_011517363.3:c.407-5582A>C | XP_011515665.1:n.407-5582A>C | |
| XM_024447326.1:c.109A>C | XP_024303094.1:p.Met37Leu | |
| XR_001745619.2:n.804A>C | ||
| XR_428387.2:n.804A>C | ||
| XR_928360.3:n.804A>C | ||
| XR_928362.3:n.804A>C | ||
| NM_153704.6:c.763A>C MANE Select | NP_714915.3:p.Met255Leu | |
| NR_024522.2:n.784A>C |