Linked Data
ClinVar Variation Id:
197786
dbSNP Id:
rs117153558
ExAC:
15:78398161 C / T
gnomAD v2:
15-78398161-C-T
gnomAD v3:
15-78105819-C-T
gnomAD v4:
15-78105819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78105819C>T , CM000677.2:g.78105819C>T | GRCh38 |
| NC_000015.9:g.78398161C>T , CM000677.1:g.78398161C>T | GRCh37 |
| NC_000015.8:g.76185216C>T | NCBI36 |
| NG_033006.1:g.30717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258930.8:c.462G>A MANE Select | ENSP00000258930.3:p.Glu154= | |
| ENST00000643268.1:c.478G>A | ENSP00000494155.1:n.478G>A | |
| ENST00000258930.7:c.462G>A | ENSP00000258930.3:p.Glu154= | |
| ENST00000539011.5:c.333G>A | ENSP00000442459.1:p.Glu111= | |
| ENST00000557818.1:c.444G>A | ENSP00000453654.1:n.444G>A | |
| ENST00000557846.5:c.315G>A | ENSP00000453488.1:p.Glu105= | |
| ENST00000557917.5:c.*71G>A | ENSP00000453963.1:n.*71G>A | |
| ENST00000560618.5:c.333G>A | ENSP00000452752.1:p.Glu111= | |
| ENST00000561190.5:c.347-487G>A | ENSP00000453256.1:n.347-487G>A | |
| NM_001271888.1:c.333G>A | NP_001258817.1:p.Glu111= | |
| NM_001271889.1:c.315G>A | NP_001258818.1:p.Glu105= | |
| NM_001301224.1:c.477G>A | NP_001288153.1:p.Glu159= | |
| NM_006383.3:c.462G>A | NP_006374.1:p.Glu154= | |
| NR_125435.1:n.670G>A | ||
| XM_005254126.2:c.462G>A | XP_005254183.1:p.Glu154= | |
| XM_006720374.2:c.333G>A | XP_006720437.1:p.Glu111= | |
| XM_011521161.1:c.333G>A | XP_011519463.1:p.Glu111= | |
| XM_005254126.3:c.462G>A | XP_005254183.1:p.Glu154= | |
| XM_011521161.2:c.333G>A | XP_011519463.1:p.Glu111= | |
| XR_001751051.1:n.1350G>A | ||
| NM_001271888.2:c.333G>A | NP_001258817.1:p.Glu111= | |
| NM_001271889.2:c.315G>A | NP_001258818.1:p.Glu105= | |
| NM_001301224.2:c.477G>A | NP_001288153.1:p.Glu159= | |
| NM_006383.4:c.462G>A MANE Select | NP_006374.1:p.Glu154= | |
| NR_125435.2:n.670G>A |