Linked Data
ClinVar Variation Id:
2976500
ClinVar RCV Id:
RCV003836650
dbSNP Id:
rs1459534591
gnomAD v2:
3-129247948-G-T
gnomAD v3:
3-129529105-G-T
gnomAD v4:
3-129529105-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529105G>T , CM000665.2:g.129529105G>T | GRCh38 |
| NC_000003.11:g.129247948G>T , CM000665.1:g.129247948G>T | GRCh37 |
| NC_000003.10:g.130730638G>T | NCBI36 |
| NG_009115.1:g.5467G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+11G>T MANE Select | ENSP00000296271.3:n.361+11G>T | |
| ENST00000296271.3:c.361+11G>T | ENSP00000296271.3:n.361+11G>T | |
| NM_000539.3:c.361+11G>T MANE Select | NP_000530.1:n.361+11G>T |