Linked Data
ClinVar Variation Id:
191238
ClinVar RCV Id:
RCV000171427
RCV000509312
RCV000502114
RCV000515202
RCV000700520
RCV001265420
RCV001266353
RCV001640264
RCV003488419
dbSNP Id:
rs786205598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127668159C>T , CM000671.2:g.127668159C>T | GRCh38 |
| NC_000009.11:g.130430438C>T , CM000671.1:g.130430438C>T | GRCh37 |
| NC_000009.10:g.129470259C>T | NCBI36 |
| NG_016623.1:g.60953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704680.1:c.832C>T | ENSP00000515991.1:p.Arg278Cys | |
| ENST00000704681.1:c.874C>T | ENSP00000515992.1:p.Arg292Cys | |
| ENST00000373299.5:c.874C>T MANE Select | ENSP00000362396.2:p.Arg292Cys | |
| ENST00000373302.8:c.874C>T MANE Plus Clinical | ENSP00000362399.3:p.Arg292Cys | |
| ENST00000626539.3:c.832C>T | ENSP00000487211.2:p.Arg278Cys | |
| ENST00000635950.2:c.874C>T | ENSP00000490903.1:p.Arg292Cys | |
| ENST00000636509.2:c.832C>T | ENSP00000490810.1:p.Arg278Cys | |
| ENST00000636962.2:c.874C>T | ENSP00000489762.1:p.Arg292Cys | |
| ENST00000637060.2:c.*516C>T | ENSP00000490674.2:n.*516C>T | |
| ENST00000637173.2:c.832C>T | ENSP00000490519.1:p.Arg278Cys | |
| ENST00000637464.2:c.*1738C>T | ENSP00000489655.2:n.*1738C>T | |
| ENST00000637521.2:c.832C>T | ENSP00000489791.1:p.Arg278Cys | |
| ENST00000637953.1:c.874C>T | ENSP00000490613.1:p.Arg292Cys | |
| ENST00000647107.1:c.816C>T | ||
| ENST00000650920.1:c.832C>T | ENSP00000498834.1:p.Arg278Cys | |
| ENST00000373299.4:c.874C>T | ENSP00000362396.1:p.Arg292Cys | |
| ENST00000373302.7:c.874C>T | ENSP00000362399.3:p.Arg292Cys | |
| ENST00000626416.2:n.710C>T | ||
| NM_001032221.3:c.874C>T | NP_001027392.1:p.Arg292Cys | |
| NM_003165.3:c.874C>T | NP_003156.1:p.Arg292Cys | |
| NM_001032221.6:c.874C>T MANE Select | NP_001027392.1:p.Arg292Cys | |
| NM_001374306.2:c.865C>T | NP_001361235.1:p.Arg289Cys | |
| NM_001374307.2:c.832C>T | NP_001361236.1:p.Arg278Cys | |
| NM_001374308.2:c.832C>T | NP_001361237.1:p.Arg278Cys | |
| NM_001374309.2:c.832C>T | NP_001361238.1:p.Arg278Cys | |
| NM_001374310.2:c.832C>T | NP_001361239.1:p.Arg278Cys | |
| NM_001374311.2:c.832C>T | NP_001361240.1:p.Arg278Cys | |
| NM_001374312.2:c.832C>T | NP_001361241.1:p.Arg278Cys | |
| NM_001374313.2:c.874C>T | NP_001361242.1:p.Arg292Cys | |
| NM_001374314.1:c.874C>T | NP_001361243.1:p.Arg292Cys | |
| NM_001374315.2:c.795-1739C>T | NP_001361244.1:n.795-1739C>T | |
| NM_003165.6:c.874C>T MANE Plus Clinical | NP_003156.1:p.Arg292Cys |