Linked Data
ClinVar Variation Id:
14235
dbSNP Id:
rs199422219
gnomAD v3:
4-99611156-C-T
gnomAD v4:
4-99611156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99611156C>T , CM000666.2:g.99611156C>T | GRCh38 |
| NC_000004.11:g.100532313C>T , CM000666.1:g.100532313C>T | GRCh37 |
| NC_000004.10:g.100751336C>T | NCBI36 |
| NG_011469.1:g.52074C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.1783C>T MANE Select | ENSP00000265517.5:p.Arg595Ter | |
| ENST00000457717.6:c.1783C>T | ENSP00000400821.1:p.Arg595Ter | |
| ENST00000511045.6:c.1534C>T | ENSP00000427679.2:p.Arg512Ter | |
| ENST00000265517.9:c.1783C>T | ENSP00000265517.5:p.Arg595Ter | |
| ENST00000457717.5:c.1783C>T | ENSP00000400821.1:p.Arg595Ter | |
| ENST00000511045.5:c.1864C>T | ENSP00000427679.1:p.Arg622Ter | |
| ENST00000619629.1:c.*230C>T | ENSP00000482850.1:n.*230C>T | |
| NM_000253.3:c.1783C>T | NP_000244.2:p.Arg595Ter | |
| NM_001300785.1:c.1864C>T | NP_001287714.1:p.Arg622Ter | |
| NM_000253.4:c.1783C>T | NP_000244.2:p.Arg595Ter | |
| NM_001300785.2:c.1534C>T | NP_001287714.2:p.Arg512Ter | |
| NM_001386140.1:c.1783C>T MANE Select | NP_001373069.1:p.Arg595Ter |