Linked Data
ClinVar Variation Id:
39732
dbSNP Id:
rs746488412
ExAC:
15:67524206 G / A
gnomAD v2:
15-67524206-G-A
gnomAD v4:
15-67231868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67231868G>A , CM000677.2:g.67231868G>A | GRCh38 |
| NC_000015.9:g.67524206G>A , CM000677.1:g.67524206G>A | GRCh37 |
| NC_000015.8:g.65311260G>A | NCBI36 |
| NG_033007.1:g.28331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261880.10:c.481C>T MANE Select | ENSP00000261880.5:p.Arg161Ter | |
| ENST00000261880.9:c.481C>T | ENSP00000261880.5:p.Arg161Ter | |
| ENST00000542650.5:c.154C>T | ENSP00000440735.1:p.Arg52Ter | |
| ENST00000558725.5:n.504C>T | ||
| ENST00000560362.1:c.154C>T | ENSP00000453059.1:p.Arg52Ter | |
| ENST00000561452.5:c.154C>T | ENSP00000453263.1:p.Arg52Ter | |
| NM_001271885.1:c.154C>T | NP_001258814.1:p.Arg52Ter | |
| NM_001271886.1:c.154C>T | NP_001258815.1:p.Arg52Ter | |
| NM_024666.4:c.481C>T | NP_078942.3:p.Arg161Ter | |
| XM_005254664.2:c.481C>T | XP_005254721.1:p.Arg161Ter | |
| XM_006720683.2:c.481C>T | XP_006720746.1:p.Arg161Ter | |
| XM_011522020.1:c.154C>T | XP_011520322.1:p.Arg52Ter | |
| XM_024450052.1:c.481C>T | XP_024305820.1:p.Arg161Ter | |
| XM_024450053.1:c.481C>T | XP_024305821.1:p.Arg161Ter | |
| NM_024666.5:c.481C>T MANE Select | NP_078942.3:p.Arg161Ter | |
| NM_001271885.2:c.154C>T | NP_001258814.1:p.Arg52Ter | |
| NM_001271886.2:c.154C>T | NP_001258815.1:p.Arg52Ter |