Linked Data
ClinVar Variation Id:
139217
dbSNP Id:
rs1065080
ExAC:
15:67457335 A / G
gnomAD v2:
15-67457335-A-G
gnomAD v3:
15-67164997-A-G
gnomAD v4:
15-67164997-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67164997A>G , CM000677.2:g.67164997A>G | GRCh38 |
| NC_000015.9:g.67457335A>G , CM000677.1:g.67457335A>G | GRCh37 |
| NC_000015.8:g.65244389A>G | NCBI36 |
| NG_011990.1:g.104141A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558739.2:c.-7A>G | ENSP00000453684.2:n.-7A>G | |
| ENST00000559460.6:c.-7A>G | ENSP00000453082.2:n.-7A>G | |
| ENST00000560424.2:c.309A>G | ENSP00000455540.2:p.Leu103= | |
| ENST00000327367.9:c.309A>G MANE Select | ENSP00000332973.4:p.Leu103= | |
| ENST00000679624.1:c.-7A>G | ENSP00000505445.1:n.-7A>G | |
| ENST00000681239.1:c.-7A>G | ENSP00000505641.1:n.-7A>G | |
| ENST00000327367.8:c.309A>G | ENSP00000332973.4:p.Leu103= | |
| ENST00000439724.7:c.177A>G | ENSP00000401133.3:p.Leu59= | |
| ENST00000540846.6:c.-7A>G | ENSP00000437757.2:n.-7A>G | |
| ENST00000558739.1:c.-7A>G | ENSP00000453684.1:n.-7A>G | |
| ENST00000558894.5:c.-7A>G | ENSP00000458060.1:n.-7A>G | |
| ENST00000559092.1:c.254A>G | ENSP00000453788.1:p.Tyr85Cys | |
| ENST00000559460.5:c.-7A>G | ENSP00000453082.1:n.-7A>G | |
| ENST00000559937.1:n.159A>G | ||
| ENST00000560175.5:c.-7A>G | ENSP00000455095.1:n.-7A>G | |
| NM_001145102.1:c.-7A>G | NP_001138574.1:n.-7A>G | |
| NM_001145103.1:c.177A>G | NP_001138575.1:p.Leu59= | |
| NM_005902.3:c.309A>G | NP_005893.1:p.Leu103= | |
| XM_011521559.1:c.309A>G | XP_011519861.1:p.Leu103= | |
| XM_011521560.1:c.162A>G | XP_011519862.1:p.Leu54= | |
| XM_011521559.3:c.309A>G | XP_011519861.1:p.Leu103= | |
| NM_005902.4:c.309A>G MANE Select | NP_005893.1:p.Leu103= | |
| NM_001145102.2:c.-7A>G | NP_001138574.1:n.-7A>G | |
| NM_001145103.2:c.177A>G | NP_001138575.1:p.Leu59= |