Linked Data
ClinVar Variation Id:
505168
dbSNP Id:
rs777893707
ExAC:
3:45588882 C / A
gnomAD v2:
3-45588882-C-A
gnomAD v3:
3-45547390-C-A
gnomAD v4:
3-45547390-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45547390C>A , CM000665.2:g.45547390C>A | GRCh38 |
| NC_000003.11:g.45588882C>A , CM000665.1:g.45588882C>A | GRCh37 |
| NC_000003.10:g.45563886C>A | NCBI36 |
| NG_033907.1:g.163808C>A | |
| NG_033907.2:g.163808C>A | |
| NG_033907.3:g.163827C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.*962C>A | ENSP00000265537.4:n.*962C>A | |
| ENST00000642274.1:c.2572C>A | ENSP00000495707.1:p.Gln858Lys | |
| ENST00000645846.2:c.2572C>A MANE Select | ENSP00000495093.1:p.Gln858Lys | |
| ENST00000650792.2:c.2572C>A | ENSP00000498867.1:p.Gln858Lys | |
| ENST00000651549.1:c.*862C>A | ENSP00000499002.1:n.*862C>A | |
| ENST00000265537.7:c.2572C>A | ENSP00000265537.3:p.Gln858Lys | |
| ENST00000414984.5:c.2443C>A | ENSP00000412893.1:p.Gln815Lys | |
| ENST00000415258.5:c.2572C>A | ENSP00000408576.1:p.Gln858Lys | |
| ENST00000474585.1:n.403C>A | ||
| ENST00000485461.1:n.566C>A | ||
| NM_015340.3:c.2572C>A | NP_056155.1:p.Gln858Lys | |
| XM_005265006.1:c.2572C>A | XP_005265063.1:p.Gln858Lys | |
| XM_005265006.2:c.2572C>A | XP_005265063.1:p.Gln858Lys | |
| XM_017006042.1:c.*29C>A | XP_016861531.1:n.*29C>A | |
| NM_015340.4:c.2572C>A MANE Select | NP_056155.1:p.Gln858Lys | |
| NM_001368263.1:c.2572C>A | NP_001355192.1:p.Gln858Lys |