Linked Data
ClinVar Variation Id:
7774
dbSNP Id:
rs61752103
ExAC:
17:33904199 G / A
gnomAD v2:
17-33904199-G-A
gnomAD v3:
17-35577180-G-A
gnomAD v4:
17-35577180-G-A
COSMIC:
COSM3387807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577180G>A , CM000679.2:g.35577180G>A | GRCh38 |
| NC_000017.10:g.33904199G>A , CM000679.1:g.33904199G>A | GRCh37 |
| NC_000017.9:g.30928312G>A | NCBI36 |
| NG_008447.1:g.6458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.538C>T MANE Select | ENSP00000225873.3:p.Arg180Ter | |
| ENST00000586663.2:c.538C>T | ENSP00000466894.2:p.Arg180Ter | |
| ENST00000225873.8:c.538C>T | ENSP00000225873.3:p.Arg180Ter | |
| ENST00000585380.1:c.538C>T | ENSP00000466280.1:p.Arg180Ter | |
| ENST00000586663.1:c.538C>T | ENSP00000466894.1:p.Arg180Ter | |
| ENST00000613219.4:c.538C>T | ENSP00000482609.1:p.Arg180Ter | |
| NM_000286.2:c.538C>T | NP_000277.1:p.Arg180Ter | |
| NM_000286.3:c.538C>T MANE Select | NP_000277.1:p.Arg180Ter |