Linked Data
ClinVar Variation Id:
1036660
ClinVar RCV Id:
RCV001339699
dbSNP Id:
rs1256631899
gnomAD v2:
6-100057187-C-T
gnomAD v3:
6-99609311-C-T
gnomAD v4:
6-99609311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99609311C>T , CM000668.2:g.99609311C>T | GRCh38 |
| NC_000006.11:g.100057187C>T , CM000668.1:g.100057187C>T | GRCh37 |
| NC_000006.10:g.100163908C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.397+4C>T MANE Select | ENSP00000358217.5:n.397+4C>T | |
| ENST00000369214.2:c.*59+4C>T | ENSP00000358216.2:n.*59+4C>T | |
| ENST00000369215.4:c.397+4C>T | ENSP00000358217.4:n.397+4C>T | |
| NM_021620.3:c.397+4C>T | NP_067633.2:n.397+4C>T | |
| NM_021620.4:c.397+4C>T MANE Select | NP_067633.2:n.397+4C>T |