Linked Data
ClinVar Variation Id:
2940779
ClinVar RCV Id:
RCV003800089
MyVariant Identifiers:
chr8:g.94792850T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780622T>C , CM000670.2:g.93780622T>C | GRCh38 |
| NC_000008.10:g.94792850T>C , CM000670.1:g.94792850T>C | GRCh37 |
| NC_000008.9:g.94862026T>C | NCBI36 |
| NG_009190.1:g.30779T>C , LRG_688:g.30779T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.744T>C | ENSP00000314488.4:p.Ala248= | |
| ENST00000409623.8:c.744T>C | ENSP00000386966.4:p.Ala248= | |
| ENST00000452276.6:c.744T>C | ENSP00000388671.2:p.Ala248= | |
| ENST00000453906.6:c.407-5601T>C | ENSP00000403035.2:n.407-5601T>C | |
| ENST00000520680.2:c.744T>C | ENSP00000428785.2:p.Ala248= | |
| ENST00000521065.2:c.*461T>C | ENSP00000427947.2:n.*461T>C | |
| ENST00000521517.6:c.744T>C | ENSP00000430740.2:p.Ala248= | |
| ENST00000681998.1:c.674T>C | ENSP00000506773.1:n.674T>C | |
| ENST00000682036.1:c.407-5601T>C | ENSP00000508390.1:n.407-5601T>C | |
| ENST00000682577.1:c.674T>C | ENSP00000506963.1:n.674T>C | |
| ENST00000682624.1:c.*318T>C | ENSP00000508343.1:n.*318T>C | |
| ENST00000682700.1:c.744T>C | ENSP00000507627.1:p.Ala248= | |
| ENST00000682744.1:n.282T>C | ||
| ENST00000682804.1:n.567T>C | ||
| ENST00000682837.1:c.499T>C | ENSP00000507920.1:p.Ser167Pro | |
| ENST00000682935.1:n.2304T>C | ||
| ENST00000682984.1:c.405T>C | ENSP00000507209.1:p.Ala135= | |
| ENST00000683078.1:c.499T>C | ENSP00000506796.1:p.Ser167Pro | |
| ENST00000683223.1:c.585T>C | ENSP00000507685.1:n.585T>C | |
| ENST00000683238.1:n.2125T>C | ||
| ENST00000683249.1:n.2325T>C | ||
| ENST00000683336.1:c.674T>C | ENSP00000507695.1:n.674T>C | |
| ENST00000683362.1:c.405T>C | ENSP00000506985.1:p.Ala135= | |
| ENST00000683850.1:n.667T>C | ||
| ENST00000683919.1:c.674T>C | ENSP00000507617.1:n.674T>C | |
| ENST00000683953.1:c.655T>C | ENSP00000508375.1:n.655T>C | |
| ENST00000684023.1:c.878T>C | ENSP00000507461.1:n.878T>C | |
| ENST00000684064.1:c.435T>C | ENSP00000508192.1:p.Ala145= | |
| ENST00000684089.1:n.2294T>C | ||
| ENST00000684149.1:c.*80T>C | ENSP00000507943.1:n.*80T>C | |
| ENST00000684416.1:n.703T>C | ||
| ENST00000684540.1:c.674T>C | ENSP00000507987.1:n.674T>C | |
| ENST00000453321.8:c.744T>C MANE Select | ENSP00000389998.3:p.Ala248= | |
| ENST00000323130.7:c.714T>C | ENSP00000314488.3:p.Ala238= | |
| ENST00000409623.7:c.501T>C | ENSP00000386966.3:p.Ala167= | |
| ENST00000425545.2:n.191T>C | ||
| ENST00000452276.5:c.435T>C | ENSP00000388671.1:p.Ala145= | |
| ENST00000453321.7:c.744T>C | ENSP00000389998.3:p.Ala248= | |
| ENST00000453906.5:c.407-5601T>C | ENSP00000403035.1:n.407-5601T>C | |
| ENST00000474944.5:n.427-5601T>C | ||
| ENST00000496213.5:n.209T>C | ||
| NM_001142301.1:c.501T>C , LRG_688t2:c.501T>C | NP_001135773.1:p.Ala167= | |
| NM_153704.5:c.744T>C , LRG_688t1:c.744T>C | NP_714915.3:p.Ala248= | |
| NR_024522.1:n.815T>C | ||
| XM_006716686.2:c.441T>C | XP_006716749.1:p.Ala147= | |
| XM_006716687.2:c.144T>C | XP_006716750.1:p.Ala48= | |
| XM_011517363.1:c.407-5601T>C | XP_011515665.1:n.407-5601T>C | |
| XR_428387.1:n.802T>C | ||
| XR_928360.1:n.802T>C | ||
| XR_928361.1:n.802T>C | ||
| XR_928362.1:n.802T>C | ||
| XM_006716686.4:c.441T>C | XP_006716749.1:p.Ala147= | |
| XM_011517363.3:c.407-5601T>C | XP_011515665.1:n.407-5601T>C | |
| XM_024447326.1:c.90T>C | XP_024303094.1:p.Ala30= | |
| XR_001745619.2:n.785T>C | ||
| XR_428387.2:n.785T>C | ||
| XR_928360.3:n.785T>C | ||
| XR_928362.3:n.785T>C | ||
| NM_153704.6:c.744T>C MANE Select | NP_714915.3:p.Ala248= | |
| NR_024522.2:n.765T>C |