Linked Data
ClinVar Variation Id:
1632805
ClinVar RCV Id:
RCV002139800
dbSNP Id:
rs767892782
ExAC:
1:151372441 C / T
gnomAD v2:
1-151372441-C-T
gnomAD v3:
1-151399965-C-T
gnomAD v4:
1-151399965-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151399965C>T , CM000663.2:g.151399965C>T | GRCh38 |
| NC_000001.10:g.151372441C>T , CM000663.1:g.151372441C>T | GRCh37 |
| NC_000001.9:g.149639065C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290541.7:c.141-16C>T MANE Select | ENSP00000290541.6:n.141-16C>T | |
| ENST00000290541.6:c.141-16C>T | ENSP00000290541.6:n.141-16C>T | |
| ENST00000476467.1:n.142-16C>T | ||
| ENST00000493673.1:n.139-16C>T | ||
| ENST00000495288.5:n.169-16C>T | ||
| ENST00000495805.5:n.150-16C>T | ||
| NM_002796.2:c.141-16C>T | NP_002787.2:n.141-16C>T | |
| NM_002796.3:c.141-16C>T MANE Select | NP_002787.2:n.141-16C>T |