Linked Data
ClinVar Variation Id:
878165
ClinVar RCV Id:
RCV001104536
dbSNP Id:
rs899262177
gnomAD v2:
11-57382120-T-C
gnomAD v3:
11-57614647-T-C
gnomAD v4:
11-57614647-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614647T>C , CM000673.2:g.57614647T>C | GRCh38 |
| NC_000011.9:g.57382120T>C , CM000673.1:g.57382120T>C | GRCh37 |
| NC_000011.8:g.57138696T>C | NCBI36 |
| NG_009625.1:g.22094T>C , LRG_105:g.22094T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.*66T>C MANE Select | ENSP00000278407.4:n.*66T>C | |
| ENST00000528996.2:c.*466T>C | ENSP00000431226.2:n.*466T>C | |
| ENST00000531605.2:c.*1345T>C | ENSP00000503752.1:n.*1345T>C | |
| ENST00000619430.2:c.*66T>C | ENSP00000478572.2:n.*66T>C | |
| ENST00000676670.1:c.*15+51T>C | ENSP00000504807.1:n.*15+51T>C | |
| ENST00000676741.1:n.2651T>C | ||
| ENST00000677624.1:c.*989T>C | ENSP00000503979.1:n.*989T>C | |
| ENST00000677625.1:c.*66T>C | ENSP00000502857.1:n.*66T>C | |
| ENST00000677856.1:n.1822T>C | ||
| ENST00000677915.1:c.*466T>C | ENSP00000503118.1:n.*466T>C | |
| ENST00000678533.1:c.*1072+51T>C | ENSP00000503873.1:n.*1072+51T>C | |
| ENST00000678592.1:c.*509T>C | ENSP00000504424.1:n.*509T>C | |
| ENST00000278407.8:c.*66T>C | ENSP00000278407.4:n.*66T>C | |
| ENST00000340687.10:c.*66T>C | ENSP00000341861.6:n.*66T>C | |
| ENST00000378323.8:c.*66T>C | ENSP00000367574.4:n.*66T>C | |
| ENST00000378324.6:c.*66T>C | ENSP00000367575.2:n.*66T>C | |
| ENST00000403558.1:c.*66T>C | ENSP00000384420.1:n.*66T>C | |
| ENST00000528996.1:c.770T>C | ENSP00000431226.1:n.770T>C | |
| ENST00000531797.5:c.*594T>C | ENSP00000432554.1:n.*594T>C | |
| NM_000062.2:c.*66T>C , LRG_105t1:c.*66T>C | NP_000053.2:n.*66T>C | |
| NM_001032295.1:c.*66T>C | NP_001027466.1:n.*66T>C | |
| NM_000062.3:c.*66T>C MANE Select | NP_000053.2:n.*66T>C | |
| NM_001032295.2:c.*66T>C | NP_001027466.1:n.*66T>C |