Linked Data
ClinVar Variation Id:
1208195
ClinVar RCV Id:
RCV001576425
dbSNP Id:
rs748108031
ExAC:
17:18028546 G / A
gnomAD v2:
17-18028546-G-A
gnomAD v3:
17-18125232-G-A
gnomAD v4:
17-18125232-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18125232G>A , CM000679.2:g.18125232G>A | GRCh38 |
| NC_000017.10:g.18028546G>A , CM000679.1:g.18028546G>A | GRCh37 |
| NC_000017.9:g.17969271G>A | NCBI36 |
| NG_011634.1:g.21527G>A | |
| NG_011634.2:g.21527G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.3756+1G>A MANE Select | ENSP00000495481.1:n.3756+1G>A | |
| ENST00000205890.9:c.3756+1G>A | ENSP00000205890.5:n.3756+1G>A | |
| ENST00000583079.1:n.6065G>A | ||
| ENST00000615845.4:c.3756+1G>A | ENSP00000481642.1:n.3756+1G>A | |
| NM_016239.3:c.3756+1G>A | NP_057323.3:n.3756+1G>A | |
| XM_011523917.1:c.3756+1G>A | XP_011522219.1:n.3756+1G>A | |
| XM_011523918.1:c.3756+1G>A | XP_011522220.1:n.3756+1G>A | |
| XM_011523919.1:c.3756+1G>A | XP_011522221.1:n.3756+1G>A | |
| XM_011523920.1:c.3756+1G>A | XP_011522222.1:n.3756+1G>A | |
| XM_011523921.1:c.3756+1G>A | XP_011522223.1:n.3756+1G>A | |
| XR_934037.1:n.4415+1G>A | ||
| XR_934038.1:n.4415+1G>A | ||
| XR_934039.1:n.4415+1G>A | ||
| XM_011523918.2:c.3756+1G>A | XP_011522220.1:n.3756+1G>A | |
| XM_017024714.2:c.3756+1G>A | XP_016880203.1:n.3756+1G>A | |
| XM_017024715.2:c.3756+1G>A | XP_016880204.1:n.3756+1G>A | |
| XM_024450780.1:c.3756+1G>A | XP_024306548.1:n.3756+1G>A | |
| XM_024450781.1:c.3756+1G>A | XP_024306549.1:n.3756+1G>A | |
| XM_024450782.1:c.3756+1G>A | XP_024306550.1:n.3756+1G>A | |
| XR_934039.2:n.4454+1G>A | ||
| NM_016239.4:c.3756+1G>A MANE Select | NP_057323.3:n.3756+1G>A |