Linked Data
ClinVar Variation Id:
2972912
ClinVar RCV Id:
RCV003838022
dbSNP Id:
rs745616372
ExAC:
3:129251573 C / T
gnomAD v2:
3-129251573-C-T
gnomAD v3:
3-129532730-C-T
gnomAD v4:
3-129532730-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532730C>T , CM000665.2:g.129532730C>T | GRCh38 |
| NC_000003.11:g.129251573C>T , CM000665.1:g.129251573C>T | GRCh37 |
| NC_000003.10:g.130734263C>T | NCBI36 |
| NG_009115.1:g.9092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.894C>T MANE Select | ENSP00000296271.3:p.Ala298= | |
| ENST00000296271.3:c.894C>T | ENSP00000296271.3:p.Ala298= | |
| NM_000539.3:c.894C>T MANE Select | NP_000530.1:p.Ala298= |