Linked Data
ClinVar Variation Id:
156253
dbSNP Id:
rs587776384
gnomAD v3:
9-128355439-C-T
gnomAD v4:
9-128355439-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128355439C>T , CM000671.2:g.128355439C>T | GRCh38 |
| NC_000009.11:g.131117718C>T , CM000671.1:g.131117718C>T | GRCh37 |
| NC_000009.10:g.130157539C>T | NCBI36 |
| NG_017057.1:g.19880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300456.5:c.1504C>T MANE Select | ENSP00000300456.3:p.Arg502Ter | |
| ENST00000300456.4:c.1504C>T | ENSP00000300456.3:p.Arg502Ter | |
| ENST00000372870.5:c.286C>T | ENSP00000361961.1:p.Arg96Ter | |
| NM_005094.3:c.1504C>T | NP_005085.2:p.Arg502Ter | |
| XM_017014222.1:c.1504C>T | XP_016869711.1:p.Arg502Ter | |
| XM_024447391.1:c.1504C>T | XP_024303159.1:p.Arg502Ter | |
| NM_005094.4:c.1504C>T MANE Select | NP_005085.2:p.Arg502Ter |