Linked Data
ClinVar Variation Id:
749247
ClinVar RCV Id:
RCV001469316
dbSNP Id:
rs374270697
ExAC:
9:136509363 C / T
gnomAD v2:
9-136509363-C-T
gnomAD v3:
9-133644241-C-T
gnomAD v4:
9-133644241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644241C>T , CM000671.2:g.133644241C>T | GRCh38 |
| NC_000009.11:g.136509363C>T , CM000671.1:g.136509363C>T | GRCh37 |
| NC_000009.10:g.135499184C>T | NCBI36 |
| NG_008645.1:g.12879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.945C>T MANE Select | ENSP00000376776.2:p.Ala315= | |
| ENST00000393056.6:c.945C>T | ENSP00000376776.2:p.Ala315= | |
| NM_000787.3:c.945C>T | NP_000778.3:p.Ala315= | |
| NM_000787.4:c.945C>T MANE Select | NP_000778.3:p.Ala315= |