Linked Data
ClinVar Variation Id:
448862
dbSNP Id:
rs1193250444
gnomAD v2:
9-79929579-C-T
gnomAD v4:
9-77314663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77314663C>T , CM000671.2:g.77314663C>T | GRCh38 |
| NC_000009.11:g.79929579C>T , CM000671.1:g.79929579C>T | GRCh37 |
| NC_000009.10:g.79119399C>T | NCBI36 |
| NG_008931.1:g.142219C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360280.8:c.4411C>T MANE Select | ENSP00000353422.3:p.Arg1471Ter | |
| ENST00000643348.1:c.4411C>T | ENSP00000493592.1:p.Arg1471Ter | |
| ENST00000645632.1:c.4411C>T | ENSP00000496361.1:p.Arg1471Ter | |
| ENST00000357409.9:c.4411C>T | ENSP00000349985.5:p.Arg1471Ter | |
| ENST00000360280.7:c.4411C>T | ENSP00000353422.3:p.Arg1471Ter | |
| ENST00000376634.8:c.4411C>T | ENSP00000365821.4:p.Arg1471Ter | |
| ENST00000376636.7:c.4294C>T | ENSP00000365823.3:p.Arg1432Ter | |
| ENST00000423463.6:n.1701C>T | ||
| ENST00000493341.1:c.1000C>T | ENSP00000437478.1:n.1000C>T | |
| NM_001018037.1:c.4294C>T | NP_001018047.1:p.Arg1432Ter | |
| NM_001018038.2:c.4411C>T | NP_001018048.1:p.Arg1471Ter | |
| NM_015186.3:c.4411C>T | NP_056001.1:p.Arg1471Ter | |
| NM_033305.2:c.4411C>T | NP_150648.2:p.Arg1471Ter | |
| XR_242579.2:n.4763C>T | ||
| XR_242580.3:n.4763C>T | ||
| XR_929740.1:n.4763C>T | ||
| XR_001746259.1:n.4763C>T | ||
| XR_001746260.1:n.4763C>T | ||
| NM_033305.3:c.4411C>T MANE Select | NP_150648.2:p.Arg1471Ter | |
| NM_001018037.2:c.4294C>T | NP_001018047.1:p.Arg1432Ter | |
| NM_001018038.3:c.4411C>T | NP_001018048.1:p.Arg1471Ter | |
| NM_015186.4:c.4411C>T | NP_056001.1:p.Arg1471Ter |