Linked Data
ClinVar Variation Id:
429907
dbSNP Id:
rs952165627
gnomAD v4:
11-72196013-C-T
COSMIC:
COSM4685279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72196013C>T , CM000673.2:g.72196013C>T | GRCh38 |
| NC_000011.9:g.71907057C>T , CM000673.1:g.71907057C>T | GRCh37 |
| NC_000011.8:g.71584705C>T | NCBI36 |
| NG_015863.1:g.11456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312293.9:c.610C>T | ENSP00000308137.4:p.Arg204Ter | |
| ENST00000393676.5:c.610C>T MANE Select | ENSP00000377281.3:p.Arg204Ter | |
| ENST00000675784.1:c.610C>T | ENSP00000502440.1:p.Arg204Ter | |
| ENST00000312293.8:c.610C>T | ENSP00000308137.4:p.Arg204Ter | |
| ENST00000393676.3:c.610C>T | ENSP00000377281.3:p.Arg204Ter | |
| ENST00000393679.5:c.610C>T | ENSP00000377284.1:p.Arg204Ter | |
| ENST00000393681.6:c.610C>T | ENSP00000377286.2:p.Arg204Ter | |
| NM_000802.3:c.610C>T | NP_000793.1:p.Arg204Ter | |
| NM_016724.2:c.610C>T | NP_057936.1:p.Arg204Ter | |
| NM_016725.2:c.610C>T | NP_057937.1:p.Arg204Ter | |
| NM_016729.2:c.610C>T | NP_057941.1:p.Arg204Ter | |
| NM_016729.3:c.610C>T MANE Select | NP_057941.1:p.Arg204Ter | |
| NM_016724.3:c.610C>T | NP_057936.1:p.Arg204Ter | |
| NM_016725.3:c.610C>T | NP_057937.1:p.Arg204Ter |