Linked Data
ClinVar Variation Id:
1387
dbSNP Id:
rs202149403
ExAC:
8:94792861 T / C
gnomAD v2:
8-94792861-T-C
gnomAD v3:
8-93780633-T-C
gnomAD v4:
8-93780633-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780633T>C , CM000670.2:g.93780633T>C | GRCh38 |
| NC_000008.10:g.94792861T>C , CM000670.1:g.94792861T>C | GRCh37 |
| NC_000008.9:g.94862037T>C | NCBI36 |
| NG_009190.1:g.30790T>C , LRG_688:g.30790T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.755T>C | ENSP00000314488.4:p.Met252Thr | |
| ENST00000409623.8:c.755T>C | ENSP00000386966.4:p.Met252Thr | |
| ENST00000452276.6:c.755T>C | ENSP00000388671.2:p.Met252Thr | |
| ENST00000453906.6:c.407-5590T>C | ENSP00000403035.2:n.407-5590T>C | |
| ENST00000520680.2:c.755T>C | ENSP00000428785.2:p.Met252Thr | |
| ENST00000521065.2:c.*472T>C | ENSP00000427947.2:n.*472T>C | |
| ENST00000521517.6:c.755T>C | ENSP00000430740.2:p.Met252Thr | |
| ENST00000681998.1:c.685T>C | ENSP00000506773.1:n.685T>C | |
| ENST00000682036.1:c.407-5590T>C | ENSP00000508390.1:n.407-5590T>C | |
| ENST00000682577.1:c.685T>C | ENSP00000506963.1:n.685T>C | |
| ENST00000682624.1:c.*329T>C | ENSP00000508343.1:n.*329T>C | |
| ENST00000682700.1:c.755T>C | ENSP00000507627.1:p.Met252Thr | |
| ENST00000682744.1:n.293T>C | ||
| ENST00000682804.1:n.578T>C | ||
| ENST00000682837.1:c.510T>C | ENSP00000507920.1:p.Tyr170= | |
| ENST00000682935.1:n.2315T>C | ||
| ENST00000682984.1:c.416T>C | ENSP00000507209.1:p.Met139Thr | |
| ENST00000683078.1:c.510T>C | ENSP00000506796.1:p.Tyr170= | |
| ENST00000683223.1:c.596T>C | ENSP00000507685.1:n.596T>C | |
| ENST00000683238.1:n.2136T>C | ||
| ENST00000683249.1:n.2336T>C | ||
| ENST00000683336.1:c.685T>C | ENSP00000507695.1:n.685T>C | |
| ENST00000683362.1:c.416T>C | ENSP00000506985.1:p.Met139Thr | |
| ENST00000683850.1:n.678T>C | ||
| ENST00000683919.1:c.685T>C | ENSP00000507617.1:n.685T>C | |
| ENST00000683953.1:c.666T>C | ENSP00000508375.1:n.666T>C | |
| ENST00000684023.1:c.889T>C | ENSP00000507461.1:n.889T>C | |
| ENST00000684064.1:c.446T>C | ENSP00000508192.1:p.Met149Thr | |
| ENST00000684089.1:n.2305T>C | ||
| ENST00000684149.1:c.*91T>C | ENSP00000507943.1:n.*91T>C | |
| ENST00000684416.1:n.714T>C | ||
| ENST00000684540.1:c.685T>C | ENSP00000507987.1:n.685T>C | |
| ENST00000453321.8:c.755T>C MANE Select | ENSP00000389998.3:p.Met252Thr | |
| ENST00000323130.7:c.725T>C | ENSP00000314488.3:p.Met242Thr | |
| ENST00000409623.7:c.512T>C | ENSP00000386966.3:p.Met171Thr | |
| ENST00000425545.2:n.202T>C | ||
| ENST00000452276.5:c.446T>C | ENSP00000388671.1:p.Met149Thr | |
| ENST00000453321.7:c.755T>C | ENSP00000389998.3:p.Met252Thr | |
| ENST00000453906.5:c.407-5590T>C | ENSP00000403035.1:n.407-5590T>C | |
| ENST00000474944.5:n.427-5590T>C | ||
| ENST00000496213.5:n.220T>C | ||
| NM_001142301.1:c.512T>C , LRG_688t2:c.512T>C | NP_001135773.1:p.Met171Thr | |
| NM_153704.5:c.755T>C , LRG_688t1:c.755T>C | NP_714915.3:p.Met252Thr | |
| NR_024522.1:n.826T>C | ||
| XM_006716686.2:c.452T>C | XP_006716749.1:p.Met151Thr | |
| XM_006716687.2:c.155T>C | XP_006716750.1:p.Met52Thr | |
| XM_011517363.1:c.407-5590T>C | XP_011515665.1:n.407-5590T>C | |
| XR_428387.1:n.813T>C | ||
| XR_928360.1:n.813T>C | ||
| XR_928361.1:n.813T>C | ||
| XR_928362.1:n.813T>C | ||
| XM_006716686.4:c.452T>C | XP_006716749.1:p.Met151Thr | |
| XM_011517363.3:c.407-5590T>C | XP_011515665.1:n.407-5590T>C | |
| XM_024447326.1:c.101T>C | XP_024303094.1:p.Met34Thr | |
| XR_001745619.2:n.796T>C | ||
| XR_428387.2:n.796T>C | ||
| XR_928360.3:n.796T>C | ||
| XR_928362.3:n.796T>C | ||
| NM_153704.6:c.755T>C MANE Select | NP_714915.3:p.Met252Thr | |
| NR_024522.2:n.776T>C |