Linked Data
ClinVar Variation Id:
242299
dbSNP Id:
rs376128040
ExAC:
15:77310489 T / G
gnomAD v2:
15-77310489-T-G
gnomAD v3:
15-77018148-T-G
gnomAD v4:
15-77018148-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77018148T>G , CM000677.2:g.77018148T>G | GRCh38 |
| NC_000015.9:g.77310489T>G , CM000677.1:g.77310489T>G | GRCh37 |
| NC_000015.8:g.75097544T>G | NCBI36 |
| NG_007526.1:g.28025T>G , LRG_172:g.28025T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.41-9710T>G | ||
| ENST00000697623.1:n.385T>G | ||
| ENST00000558012.6:c.37T>G MANE Select | ENSP00000452746.1:p.Cys13Gly | |
| ENST00000379595.7:c.37T>G | ENSP00000368914.3:p.Cys13Gly | |
| ENST00000558012.5:c.37T>G | ENSP00000452746.1:p.Cys13Gly | |
| ENST00000558407.5:c.232T>G | ENSP00000453268.1:p.Cys78Gly | |
| ENST00000559161.5:c.37T>G | ENSP00000453372.1:p.Cys13Gly | |
| ENST00000559295.5:c.37T>G | ENSP00000452743.1:p.Cys13Gly | |
| ENST00000559750.5:c.37T>G | ENSP00000453531.1:p.Cys13Gly | |
| ENST00000559785.5:c.232T>G | ENSP00000452986.1:p.Cys78Gly | |
| ENST00000559795.5:n.485T>G | ||
| ENST00000559859.5:c.10T>G | ENSP00000453218.1:p.Cys4Gly | |
| ENST00000560223.5:c.*139T>G | ENSP00000454118.1:n.*139T>G | |
| ENST00000560377.5:n.226T>G | ||
| ENST00000560621.5:n.249T>G | ||
| ENST00000560796.5:c.-66T>G | ENSP00000454127.1:n.-66T>G | |
| NM_003978.3:c.37T>G , LRG_172t1:c.37T>G | NP_003969.2:p.Cys13Gly | |
| XM_006720737.2:c.-382T>G | XP_006720800.1:n.-382T>G | |
| XM_011522163.1:c.37T>G | XP_011520465.1:p.Cys13Gly | |
| XM_011522164.1:c.-66T>G | XP_011520466.1:n.-66T>G | |
| XM_011522166.1:c.37T>G | XP_011520468.1:p.Cys13Gly | |
| XM_011522167.1:c.37T>G | XP_011520469.1:p.Cys13Gly | |
| XM_011522168.1:c.37T>G | XP_011520470.1:p.Cys13Gly | |
| XM_011522169.1:c.37T>G | XP_011520471.1:p.Cys13Gly | |
| XM_011522171.1:c.-319T>G | XP_011520473.1:n.-319T>G | |
| XM_011522172.1:c.-371T>G | XP_011520474.1:n.-371T>G | |
| XR_931936.1:n.487T>G | ||
| XR_931937.1:n.487T>G | ||
| XR_931938.1:n.487T>G | ||
| XR_931939.1:n.487T>G | ||
| XR_931940.1:n.487T>G | ||
| NM_001321135.1:c.37T>G | NP_001308064.1:p.Cys13Gly | |
| NM_001321136.1:c.10T>G | NP_001308065.1:p.Cys4Gly | |
| NM_001321137.1:c.232T>G | NP_001308066.1:p.Cys78Gly | |
| NM_003978.4:c.37T>G | NP_003969.2:p.Cys13Gly | |
| NR_135552.1:n.526T>G | ||
| XM_006720737.3:c.-382T>G | XP_006720800.1:n.-382T>G | |
| XM_011522163.2:c.37T>G | XP_011520465.1:p.Cys13Gly | |
| XM_011522166.2:c.37T>G | XP_011520468.1:p.Cys13Gly | |
| XM_011522167.2:c.37T>G | XP_011520469.1:p.Cys13Gly | |
| XM_011522168.3:c.37T>G | XP_011520470.1:p.Cys13Gly | |
| XM_011522169.2:c.37T>G | XP_011520471.1:p.Cys13Gly | |
| XR_931936.2:n.485T>G | ||
| XR_931937.2:n.485T>G | ||
| XR_931938.2:n.485T>G | ||
| XR_931939.2:n.485T>G | ||
| NM_001321135.2:c.37T>G | NP_001308064.1:p.Cys13Gly | |
| NM_001321136.2:c.10T>G | NP_001308065.1:p.Cys4Gly | |
| NM_003978.5:c.37T>G MANE Select | NP_003969.2:p.Cys13Gly | |
| NR_135552.2:n.485T>G |