Linked Data
ClinVar Variation Id:
227652
dbSNP Id:
rs181355572
ExAC:
17:18054237 G / T
gnomAD v2:
17-18054237-G-T
gnomAD v3:
17-18150923-G-T
gnomAD v4:
17-18150923-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18150923G>T , CM000679.2:g.18150923G>T | GRCh38 |
| NC_000017.10:g.18054237G>T , CM000679.1:g.18054237G>T | GRCh37 |
| NC_000017.9:g.17994962G>T | NCBI36 |
| NG_011634.1:g.47218G>T | |
| NG_011634.2:g.47218G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.7473+10G>T MANE Select | ENSP00000495481.1:n.7473+10G>T | |
| ENST00000205890.9:c.7473+10G>T | ENSP00000205890.5:n.7473+10G>T | |
| ENST00000615845.4:c.7473+10G>T | ENSP00000481642.1:n.7473+10G>T | |
| NM_016239.3:c.7473+10G>T | NP_057323.3:n.7473+10G>T | |
| XM_011523921.1:c.7467+10G>T | XP_011522223.1:n.7467+10G>T | |
| XR_934293.1:n.434+680C>A | ||
| XR_934294.1:n.434+680C>A | ||
| XR_934295.1:n.253+680C>A | ||
| XM_017024714.2:c.7413+10G>T | XP_016880203.1:n.7413+10G>T | |
| XM_017024715.2:c.7476+10G>T | XP_016880204.1:n.7476+10G>T | |
| XR_934293.2:n.377+680C>A | ||
| XR_934294.2:n.377+680C>A | ||
| NM_016239.4:c.7473+10G>T MANE Select | NP_057323.3:n.7473+10G>T |