Linked Data
ClinVar Variation Id:
742250
ClinVar RCV Id:
RCV000918485
dbSNP Id:
rs745921564
ExAC:
6:43487446 G / A
gnomAD v2:
6-43487446-G-A
gnomAD v3:
6-43519708-G-A
gnomAD v4:
6-43519708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43519708G>A , CM000668.2:g.43519708G>A | GRCh38 |
| NC_000006.11:g.43487446G>A , CM000668.1:g.43487446G>A | GRCh37 |
| NC_000006.10:g.43595424G>A | NCBI36 |
| NG_028283.1:g.7670G>A | |
| NG_028283.3:g.15007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.252G>A | ENSP00000496683.1:p.Val84= | |
| ENST00000642195.1:c.252G>A MANE Select | ENSP00000496044.1:p.Val84= | |
| ENST00000643341.1:c.252G>A | ENSP00000496018.1:p.Val84= | |
| ENST00000643799.1:c.252G>A | ENSP00000494529.1:p.Val84= | |
| ENST00000645141.1:c.252G>A | ENSP00000496755.1:p.Val84= | |
| ENST00000646188.1:c.87G>A | ENSP00000496001.1:p.Val29= | |
| ENST00000646433.1:c.252G>A | ENSP00000494368.1:p.Val84= | |
| ENST00000646700.1:c.252G>A | ENSP00000495521.1:p.Val84= | |
| ENST00000304004.7:c.252G>A | ENSP00000307212.3:p.Val84= | |
| ENST00000372344.6:c.252G>A | ENSP00000361419.2:p.Val84= | |
| ENST00000372389.7:c.252G>A | ENSP00000361465.3:p.Val84= | |
| ENST00000423780.1:c.250G>A | ||
| ENST00000428025.6:c.87G>A | ENSP00000395401.2:p.Val29= | |
| ENST00000455605.2:n.229G>A | ||
| ENST00000481352.6:n.308G>A | ||
| ENST00000488601.6:n.264G>A | ||
| ENST00000512472.5:n.544G>A | ||
| NM_203290.2:c.252G>A | NP_976035.1:p.Val84= | |
| XM_005249491.1:c.252G>A | XP_005249548.1:p.Val84= | |
| XM_011515000.1:c.252G>A | XP_011513302.1:p.Val84= | |
| NM_001318876.1:c.252G>A | NP_001305805.1:p.Val84= | |
| NM_001363658.1:c.252G>A | NP_001350587.1:p.Val84= | |
| NM_203290.3:c.252G>A | NP_976035.1:p.Val84= | |
| NM_203290.4:c.252G>A MANE Select | NP_976035.1:p.Val84= | |
| NM_001363658.2:c.252G>A | NP_001350587.1:p.Val84= | |
| NM_001318876.2:c.252G>A | NP_001305805.1:p.Val84= |