Linked Data
ClinVar Variation Id:
3059534
ClinVar RCV Id:
RCV003974505
dbSNP Id:
rs17833498
ExAC:
7:2647007 G / A
gnomAD v2:
7-2647007-G-A
gnomAD v3:
7-2607373-G-A
gnomAD v4:
7-2607373-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2607373G>A , CM000669.2:g.2607373G>A | GRCh38 |
| NC_000007.13:g.2647007G>A , CM000669.1:g.2647007G>A | GRCh37 |
| NC_000007.12:g.2613533G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402050.7:c.1969+146G>A MANE Select | ENSP00000385597.2:n.1969+146G>A | |
| ENST00000325979.11:c.1774+146G>A | ENSP00000313772.7:n.1774+146G>A | |
| ENST00000325997.13:c.*1746+146G>A | ENSP00000314011.10:n.*1746+146G>A | |
| ENST00000402050.6:c.1969+146G>A | ENSP00000385597.2:n.1969+146G>A | |
| ENST00000404984.5:c.1816+146G>A | ENSP00000385945.1:n.1816+146G>A | |
| ENST00000438376.6:c.1921+146G>A | ENSP00000396178.2:n.1921+146G>A | |
| ENST00000476665.5:c.*6G>A | ENSP00000480715.1:n.*6G>A | |
| ENST00000611775.4:c.*6G>A | ENSP00000480668.1:n.*6G>A | |
| ENST00000623361.3:c.1774+146G>A | ENSP00000485601.1:n.1774+146G>A | |
| NM_001287499.1:c.*6G>A | NP_001274428.1:n.*6G>A | |
| NM_001287500.1:c.*6G>A | NP_001274429.1:n.*6G>A | |
| NM_001287501.1:c.1774+146G>A | NP_001274430.1:n.1774+146G>A | |
| NM_001287502.1:c.*6G>A | NP_001274431.1:n.*6G>A | |
| NM_152558.4:c.1969+146G>A | NP_689771.3:n.1969+146G>A | |
| XM_006715676.2:c.*6G>A | XP_006715739.1:n.*6G>A | |
| XM_006715677.2:c.*6G>A | XP_006715740.1:n.*6G>A | |
| XM_011515242.1:c.*6G>A | XP_011513544.1:n.*6G>A | |
| XM_011515243.1:c.*6G>A | XP_011513545.1:n.*6G>A | |
| XM_011515244.1:c.*6G>A | XP_011513546.1:n.*6G>A | |
| XM_011515244.3:c.*6G>A | XP_011513546.1:n.*6G>A | |
| XM_017011902.1:c.1990+146G>A | XP_016867391.1:n.1990+146G>A | |
| XM_017011903.1:c.1774+146G>A | XP_016867392.1:n.1774+146G>A | |
| XM_024446698.1:c.*6G>A | XP_024302466.1:n.*6G>A | |
| XM_024446699.1:c.*6G>A | XP_024302467.1:n.*6G>A | |
| XM_024446700.1:c.1534+146G>A | XP_024302468.1:n.1534+146G>A | |
| NM_152558.5:c.1969+146G>A MANE Select | NP_689771.3:n.1969+146G>A | |
| NM_001287499.2:c.*6G>A | NP_001274428.1:n.*6G>A | |
| NM_001287500.2:c.*6G>A | NP_001274429.1:n.*6G>A | |
| NM_001287502.2:c.*6G>A | NP_001274431.1:n.*6G>A | |
| NM_001287501.2:c.1774+146G>A | NP_001274430.1:n.1774+146G>A |