Linked Data
ClinVar Variation Id:
1035308
ClinVar RCV Id:
RCV001338156
dbSNP Id:
rs201967671
ExAC:
17:72919033 C / T
gnomAD v2:
17-72919033-C-T
gnomAD v3:
17-74922938-C-T
gnomAD v4:
17-74922938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922938C>T , CM000679.2:g.74922938C>T | GRCh38 |
| NC_000017.10:g.72919033C>T , CM000679.1:g.72919033C>T | GRCh37 |
| NC_000017.9:g.70430628C>T | NCBI36 |
| NG_007882.1:g.5319G>A | |
| NG_033062.1:g.3664C>T | |
| NG_007882.2:g.5326G>A | |
| NG_033062.2:g.3664C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.136G>A MANE Select | ENSP00000480279.1:p.Glu46Lys | |
| ENST00000579243.1:c.136G>A | ENSP00000462568.1:p.Glu46Lys | |
| ENST00000614341.4:c.136G>A | ENSP00000480279.1:p.Glu46Lys | |
| NM_001282489.2:c.-121G>A | NP_001269418.1:n.-121G>A | |
| NM_173477.4:c.136G>A | NP_775748.2:p.Glu46Lys | |
| NM_173477.5:c.136G>A MANE Select | NP_775748.2:p.Glu46Lys | |
| NM_001282489.3:c.-121G>A | NP_001269418.1:n.-121G>A |