Linked Data
ClinVar Variation Id:
1708214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.72196350C>T , CM000667.2:g.72196350C>T | GRCh38 |
| NC_000005.9:g.71492177C>T , CM000667.1:g.71492177C>T | GRCh37 |
| NC_000005.8:g.71527933C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296755.12:c.2995C>T MANE Select | ENSP00000296755.7:p.Arg999Ter | |
| ENST00000296755.11:c.2995C>T | ENSP00000296755.7:p.Arg999Ter | |
| NM_005909.3:c.2995C>T | NP_005900.2:p.Arg999Ter | |
| XM_005248507.2:c.2617C>T | XP_005248564.1:p.Arg873Ter | |
| NM_001324255.1:c.2617C>T | NP_001311184.1:p.Arg873Ter | |
| NM_005909.4:c.2995C>T | NP_005900.2:p.Arg999Ter | |
| NM_005909.5:c.2995C>T MANE Select | NP_005900.2:p.Arg999Ter | |
| NM_001324255.2:c.2617C>T | NP_001311184.1:p.Arg873Ter |