Linked Data
ClinVar Variation Id:
4685
dbSNP Id:
rs119477053
ExAC:
9:79828156 C / T
gnomAD v2:
9-79828156-C-T
gnomAD v3:
9-77213240-C-T
gnomAD v4:
9-77213240-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77213240C>T , CM000671.2:g.77213240C>T | GRCh38 |
| NC_000009.11:g.79828156C>T , CM000671.1:g.79828156C>T | GRCh37 |
| NC_000009.10:g.79017976C>T | NCBI36 |
| NG_008931.1:g.40796C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360280.8:c.622C>T MANE Select | ENSP00000353422.3:p.Arg208Ter | |
| ENST00000643348.1:c.622C>T | ENSP00000493592.1:p.Arg208Ter | |
| ENST00000645632.1:c.622C>T | ENSP00000496361.1:p.Arg208Ter | |
| ENST00000357409.9:c.622C>T | ENSP00000349985.5:p.Arg208Ter | |
| ENST00000360280.7:c.622C>T | ENSP00000353422.3:p.Arg208Ter | |
| ENST00000376634.8:c.622C>T | ENSP00000365821.4:p.Arg208Ter | |
| ENST00000376636.7:c.622C>T | ENSP00000365823.3:p.Arg208Ter | |
| NM_001018037.1:c.622C>T | NP_001018047.1:p.Arg208Ter | |
| NM_001018038.2:c.622C>T | NP_001018048.1:p.Arg208Ter | |
| NM_015186.3:c.622C>T | NP_056001.1:p.Arg208Ter | |
| NM_033305.2:c.622C>T | NP_150648.2:p.Arg208Ter | |
| XR_242579.2:n.974C>T | ||
| XR_242580.3:n.974C>T | ||
| XR_929740.1:n.974C>T | ||
| XR_001746259.1:n.974C>T | ||
| XR_001746260.1:n.974C>T | ||
| NM_033305.3:c.622C>T MANE Select | NP_150648.2:p.Arg208Ter | |
| NM_001018037.2:c.622C>T | NP_001018047.1:p.Arg208Ter | |
| NM_001018038.3:c.622C>T | NP_001018048.1:p.Arg208Ter | |
| NM_015186.4:c.622C>T | NP_056001.1:p.Arg208Ter |