Linked Data
ClinVar Variation Id:
1181401
ClinVar RCV Id:
RCV001538775
dbSNP Id:
rs3740065
gnomAD v2:
10-101605693-A-G
gnomAD v3:
10-99845936-A-G
gnomAD v4:
10-99845936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845936A>G , CM000672.2:g.99845936A>G | GRCh38 |
| NC_000010.10:g.101605693A>G , CM000672.1:g.101605693A>G | GRCh37 |
| NC_000010.9:g.101595683A>G | NCBI36 |
| NG_011798.1:g.68231A>G | |
| NG_011798.2:g.68339A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4146+154A>G MANE Select | ENSP00000497274.1:n.4146+154A>G | |
| ENST00000648523.1:c.34+154A>G | ||
| ENST00000649459.1:n.494+154A>G | ||
| ENST00000370449.8:c.4146+154A>G | ENSP00000359478.4:n.4146+154A>G | |
| NM_000392.4:c.4146+154A>G | NP_000383.1:n.4146+154A>G | |
| XM_006717630.2:c.3450+154A>G | XP_006717693.1:n.3450+154A>G | |
| XR_945604.1:n.4276+154A>G | ||
| XR_945605.1:n.4210+154A>G | ||
| NM_000392.5:c.4146+154A>G MANE Select | NP_000383.2:n.4146+154A>G | |
| XM_006717630.3:c.3450+154A>G | XP_006717693.1:n.3450+154A>G | |
| XR_945604.3:n.4330+154A>G | ||
| XR_945605.3:n.4262+154A>G |