Linked Data
ClinVar Variation Id:
365651
ClinVar RCV Id:
RCV000333318
dbSNP Id:
rs886063659
gnomAD v4:
9-133643597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643597C>T , CM000671.2:g.133643597C>T | GRCh38 |
| NC_000009.11:g.136508719C>T , CM000671.1:g.136508719C>T | GRCh37 |
| NC_000009.10:g.135498540C>T | NCBI36 |
| NG_008645.1:g.12235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.921+8C>T MANE Select | ENSP00000376776.2:n.921+8C>T | |
| ENST00000393056.6:c.921+8C>T | ENSP00000376776.2:n.921+8C>T | |
| NM_000787.3:c.921+8C>T | NP_000778.3:n.921+8C>T | |
| NM_000787.4:c.921+8C>T MANE Select | NP_000778.3:n.921+8C>T |