Linked Data
ClinVar Variation Id:
2571393
ClinVar RCV Id:
RCV003312793
dbSNP Id:
rs5275
gnomAD v2:
1-186643058-A-G
gnomAD v3:
1-186673926-A-G
gnomAD v4:
1-186673926-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186673926A>G , CM000663.2:g.186673926A>G | GRCh38 |
| NC_000001.10:g.186643058A>G , CM000663.1:g.186643058A>G | GRCh37 |
| NC_000001.9:g.184909681A>G | NCBI36 |
| NG_028206.2:g.11502T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367468.10:c.*427T>C MANE Select | ENSP00000356438.5:n.*427T>C | |
| ENST00000680451.1:c.*427T>C | ENSP00000506242.1:n.*427T>C | |
| ENST00000681605.1:c.*1914T>C | ENSP00000504900.1:n.*1914T>C | |
| ENST00000367468.9:c.*427T>C | ENSP00000356438.5:n.*427T>C | |
| ENST00000490885.6:n.2657T>C | ||
| NM_000963.3:c.*427T>C | NP_000954.1:n.*427T>C | |
| NM_000963.4:c.*427T>C MANE Select | NP_000954.1:n.*427T>C |