Linked Data
ClinVar Variation Id:
371619
ClinVar RCV Id:
RCV000409485
dbSNP Id:
rs1057517415
PubMed:
PMID:15633893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647087A>G , CM000671.2:g.34647087A>G | GRCh38 |
| NC_000009.11:g.34647084A>G , CM000671.1:g.34647084A>G | GRCh37 |
| NC_000009.10:g.34637084A>G | NCBI36 |
| NG_009029.1:g.5450A>G | |
| NG_009029.2:g.5499A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.83-2A>G | ENSP00000509954.1:n.83-2A>G | |
| ENST00000378842.8:c.83-2A>G MANE Select | ENSP00000368119.4:n.83-2A>G | |
| ENST00000378842.7:c.83-2A>G | ENSP00000368119.3:n.83-2A>G | |
| ENST00000450095.6:c.-120-2A>G | ENSP00000401956.2:n.-120-2A>G | |
| ENST00000465543.6:n.420A>G | ||
| ENST00000468099.2:n.155-34A>G | ||
| ENST00000472111.5:n.124-2A>G | ||
| ENST00000473506.6:c.83-2A>G | ENSP00000432839.2:n.83-2A>G | |
| ENST00000473529.5:n.130-2A>G | ||
| ENST00000485531.1:n.76-2A>G | ||
| ENST00000487381.5:n.109-2A>G | ||
| ENST00000489643.6:n.113-2A>G | ||
| ENST00000554085.5:c.83-2A>G | ENSP00000450419.1:n.83-2A>G | |
| ENST00000554139.5:n.136-2A>G | ||
| ENST00000554330.5:n.80-2A>G | ||
| ENST00000554550.5:c.83-2A>G | ENSP00000451435.1:n.83-2A>G | |
| ENST00000554638.5:n.107-2A>G | ||
| ENST00000554897.5:c.83-2A>G | ENSP00000450942.1:n.83-2A>G | |
| ENST00000554944.5:n.113-2A>G | ||
| ENST00000555020.5:n.113-2A>G | ||
| ENST00000555086.5:n.87-2A>G | ||
| ENST00000555214.5:n.92-2A>G | ||
| ENST00000556157.1:n.188A>G | ||
| ENST00000556278.1:c.83-2A>G | ENSP00000451792.1:n.83-2A>G | |
| ENST00000556403.5:n.96-2A>G | ||
| ENST00000556494.5:n.115-2A>G | ||
| ENST00000557541.5:n.276-2A>G | ||
| ENST00000557706.5:n.195A>G | ||
| ENST00000605275.1:n.619A>G | ||
| NM_000155.3:c.83-2A>G | NP_000146.2:n.83-2A>G | |
| NM_001258332.1:c.-120-2A>G | NP_001245261.1:n.-120-2A>G | |
| NM_000155.4:c.83-2A>G MANE Select | NP_000146.2:n.83-2A>G | |
| NM_001258332.2:c.-120-2A>G | NP_001245261.1:n.-120-2A>G |