Linked Data
ClinVar Variation Id:
448105
ClinVar RCV Id:
RCV000517147
dbSNP Id:
rs765949668
COSMIC:
COSM5454402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318700T>C , CM000677.2:g.89318700T>C | GRCh38 |
| NC_000015.9:g.89861931T>C , CM000677.1:g.89861931T>C | GRCh37 |
| NC_000015.8:g.87662935T>C | NCBI36 |
| NG_008218.1:g.21096A>G | |
| NG_011736.1:g.79738T>C , LRG_500:g.79738T>C | |
| NG_008218.2:g.21096A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3323A>G | ENSP00000516154.1:p.Tyr1108Cys | |
| ENST00000268124.11:c.3323A>G MANE Select | ENSP00000268124.5:p.Tyr1108Cys | |
| ENST00000530292.3:c.2924A>G | ENSP00000432885.2:p.Tyr975Cys | |
| ENST00000635986.2:c.*393A>G | ENSP00000490653.2:n.*393A>G | |
| ENST00000636774.1:c.*1890A>G | ENSP00000489799.1:n.*1890A>G | |
| ENST00000637238.1:c.2132A>G | ENSP00000490756.1:n.2132A>G | |
| ENST00000637264.1:c.2395A>G | ||
| ENST00000666746.1:c.2900A>G | ||
| ENST00000672071.1:n.3521A>G | ||
| ENST00000672695.1:n.500A>G | ||
| ENST00000672923.2:n.3323A>G | ||
| ENST00000268124.9:c.3323A>G | ENSP00000268124.5:p.Tyr1108Cys | |
| ENST00000442287.6:c.3323A>G | ENSP00000399851.2:p.Tyr1108Cys | |
| ENST00000530292.2:c.407A>G | ENSP00000432885.1:p.Tyr136Cys | |
| ENST00000631044.2:c.*2747A>G | ENSP00000486730.1:n.*2747A>G | |
| NM_001126131.1:c.3323A>G | NP_001119603.1:p.Tyr1108Cys | |
| NM_002693.2:c.3323A>G | NP_002684.1:p.Tyr1108Cys | |
| NM_001126131.2:c.3323A>G | NP_001119603.1:p.Tyr1108Cys | |
| NM_002693.3:c.3323A>G MANE Select | NP_002684.1:p.Tyr1108Cys |