Linked Data
ClinVar Variation Id:
6112
ClinVar RCV Id:
RCV000006486
dbSNP Id:
rs121908606
ExAC:
5:52403002 C / T
gnomAD v2:
5-52403002-C-T
gnomAD v4:
5-53107172-C-T
PubMed:
PMID:10053004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53107172C>T , CM000667.2:g.53107172C>T | GRCh38 |
| NC_000005.9:g.52403002C>T , CM000667.1:g.52403002C>T | GRCh37 |
| NC_000005.8:g.52438759C>T | NCBI36 |
| NG_008435.2:g.7597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.3G>A MANE Select | ENSP00000380157.3:p.Met1Ile | |
| ENST00000450852.8:c.190G>A MANE Plus Clinical | ENSP00000411022.3:p.Val64Ile | |
| ENST00000361377.8:c.190G>A | ENSP00000355160.4:p.Val64Ile | |
| ENST00000396954.7:c.3G>A | ENSP00000380157.3:p.Met1Ile | |
| ENST00000450852.7:c.190G>A | ENSP00000411022.3:p.Val64Ile | |
| ENST00000502402.5:n.926G>A | ||
| ENST00000508922.5:c.190G>A | ENSP00000426274.1:p.Val64Ile | |
| ENST00000510818.6:c.190G>A | ENSP00000424267.2:p.Val64Ile | |
| ENST00000514553.2:n.188G>A | ||
| ENST00000527216.5:c.175G>A | ENSP00000435326.1:p.Val59Ile | |
| ENST00000582677.5:c.190G>A | ENSP00000462870.1:p.Val64Ile | |
| ENST00000584946.5:c.190G>A | ENSP00000464663.1:p.Val64Ile | |
| NM_004531.4:c.3G>A | NP_004522.1:p.Met1Ile | |
| NM_176806.3:c.190G>A | NP_789776.1:p.Val64Ile | |
| NM_004531.5:c.3G>A MANE Select | NP_004522.1:p.Met1Ile | |
| NM_176806.4:c.190G>A MANE Plus Clinical | NP_789776.1:p.Val64Ile |