Linked Data
ClinVar Variation Id:
6948
dbSNP Id:
rs34767364
ExAC:
8:90983460 G / A
gnomAD v2:
8-90983460-G-A
gnomAD v3:
8-89971232-G-A
gnomAD v4:
8-89971232-G-A
PubMed:
PMID:11325820
PMID:14559852
PMID:15185344
PMID:16033915
PMID:16702373
PMID:16770759
PMID:17957789
PMID:18066092
PMID:18073374
PMID:18328813
PMID:19452044
PMID:19523210
PMID:19629396
PMID:19804755
PMID:19813148
PMID:20301355
PMID:20981092
PMID:22131123
PMID:22491912
PMID:23458873
PMID:23891399
PMID:24093751
PMID:24113799
PMID:24556621
PMID:24728327
PMID:24733792
PMID:24894818
PMID:24928521
PMID:26315354
PMID:26722329
PMID:26822949
PMID:26929905
PMID:27028851
PMID:27153395
PMID:27443514
PMID:27621404
PMID:28261280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89971232G>A , CM000670.2:g.89971232G>A | GRCh38 |
| NC_000008.10:g.90983460G>A , CM000670.1:g.90983460G>A | GRCh37 |
| NC_000008.9:g.91052636G>A | NCBI36 |
| NG_008860.1:g.18440C>T , LRG_158:g.18440C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.1945C>T | ||
| ENST00000517337.2:c.397C>T | ENSP00000429971.2:p.Arg133Trp | |
| ENST00000523444.2:c.397C>T | ENSP00000428252.2:p.Arg133Trp | |
| ENST00000697292.1:c.643C>T | ENSP00000513229.1:p.Arg215Trp | |
| ENST00000697293.1:c.643C>T | ENSP00000513230.1:p.Arg215Trp | |
| ENST00000697294.1:c.*254C>T | ENSP00000513231.1:n.*254C>T | |
| ENST00000697295.1:c.96C>T | ENSP00000513232.1:p.Asp32= | |
| ENST00000697296.1:c.*311C>T | ENSP00000513233.1:n.*311C>T | |
| ENST00000697297.1:n.2428C>T | ||
| ENST00000697298.1:c.397C>T | ENSP00000513234.1:p.Arg133Trp | |
| ENST00000697299.1:c.397C>T | ENSP00000513235.1:p.Arg133Trp | |
| ENST00000697300.1:c.*247C>T | ENSP00000513236.1:n.*247C>T | |
| ENST00000697301.1:c.*164C>T | ENSP00000513237.1:n.*164C>T | |
| ENST00000697302.1:c.*164C>T | ENSP00000513238.1:n.*164C>T | |
| ENST00000697303.1:c.*247C>T | ENSP00000513239.1:n.*247C>T | |
| ENST00000697304.1:c.585-6725C>T | ENSP00000513240.1:n.585-6725C>T | |
| ENST00000697306.1:c.480+9502C>T | ENSP00000513241.1:n.480+9502C>T | |
| ENST00000697307.1:c.643C>T | ENSP00000513242.1:p.Arg215Trp | |
| ENST00000697308.1:c.643C>T | ENSP00000513243.1:p.Arg215Trp | |
| ENST00000697309.1:c.643C>T | ENSP00000513244.1:p.Arg215Trp | |
| ENST00000697310.1:c.643C>T | ENSP00000513245.1:p.Arg215Trp | |
| ENST00000697311.1:c.643C>T | ENSP00000513246.1:p.Arg215Trp | |
| ENST00000697312.1:c.*41C>T | ENSP00000513247.1:n.*41C>T | |
| ENST00000697313.1:n.2434C>T | ||
| ENST00000697314.1:n.2434C>T | ||
| ENST00000697315.1:c.643C>T | ENSP00000513248.1:p.Arg215Trp | |
| ENST00000697316.1:n.764C>T | ||
| ENST00000697317.1:n.753C>T | ||
| ENST00000697318.1:n.755C>T | ||
| ENST00000265433.8:c.643C>T MANE Select | ENSP00000265433.4:p.Arg215Trp | |
| ENST00000265433.7:c.643C>T | ENSP00000265433.3:p.Arg215Trp | |
| ENST00000396252.6:c.*516C>T | ENSP00000379551.2:n.*516C>T | |
| ENST00000409330.5:c.397C>T | ENSP00000386924.1:p.Arg133Trp | |
| ENST00000517772.5:c.397C>T | ENSP00000428717.1:p.Arg133Trp | |
| ENST00000519426.5:c.379C>T | ENSP00000430983.1:p.Arg127Trp | |
| NM_001024688.2:c.397C>T | NP_001019859.1:p.Arg133Trp | |
| NM_002485.4:c.643C>T , LRG_158t1:c.643C>T | NP_002476.2:p.Arg215Trp | |
| XM_011517044.1:c.619C>T | XP_011515346.1:p.Arg207Trp | |
| XM_011517045.1:c.397C>T | XP_011515347.1:p.Arg133Trp | |
| XM_011517046.1:c.643C>T | XP_011515348.1:p.Arg215Trp | |
| XR_928335.1:n.780C>T | ||
| XM_017013460.1:c.-237C>T | XP_016868949.1:n.-237C>T | |
| XM_017013462.2:c.-237C>T | XP_016868951.1:n.-237C>T | |
| XM_024447163.1:c.397C>T | XP_024302931.1:p.Arg133Trp | |
| XM_024447164.1:c.397C>T | XP_024302932.1:p.Arg133Trp | |
| XM_024447165.1:c.-237C>T | XP_024302933.1:n.-237C>T | |
| NM_002485.5:c.643C>T MANE Select | NP_002476.2:p.Arg215Trp | |
| NM_001024688.3:c.397C>T | NP_001019859.1:p.Arg133Trp |