Linked Data
ClinVar Variation Id:
1655153
ClinVar RCV Id:
RCV002166531
dbSNP Id:
rs991870747
gnomAD v3:
3-136262063-C-T
gnomAD v4:
3-136262063-C-T
COSMIC:
COSM4845369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262063C>T , CM000665.2:g.136262063C>T | GRCh38 |
| NC_000003.11:g.135980905C>T , CM000665.1:g.135980905C>T | GRCh37 |
| NC_000003.10:g.137463595C>T | NCBI36 |
| NG_008939.1:g.16739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.541C>T MANE Select | ENSP00000251654.4:p.Leu181= | |
| ENST00000251654.8:c.541C>T | ENSP00000251654.4:p.Leu181= | |
| ENST00000459873.1:c.292C>T | ENSP00000419293.1:p.Leu98= | |
| ENST00000462542.5:c.408C>T | ||
| ENST00000462637.5:c.472C>T | ENSP00000420391.1:p.Leu158= | |
| ENST00000465176.5:n.503C>T | ||
| ENST00000466072.5:c.541C>T | ENSP00000420158.1:p.Leu181= | |
| ENST00000468777.5:c.634C>T | ENSP00000419129.1:p.Leu212= | |
| ENST00000469217.5:c.601C>T | ENSP00000419027.1:p.Leu201= | |
| ENST00000471595.5:c.541C>T | ENSP00000417549.1:p.Leu181= | |
| ENST00000473073.1:n.498C>T | ||
| ENST00000474833.5:n.168+11505C>T | ||
| ENST00000475214.5:n.455C>T | ||
| ENST00000478469.5:c.541C>T | ENSP00000420759.1:p.Leu181= | |
| ENST00000482086.5:c.193C>T | ENSP00000417253.1:p.Leu65= | |
| ENST00000483687.5:c.484C>T | ENSP00000420639.1:p.Leu162= | |
| ENST00000484181.5:c.541C>T | ENSP00000417937.1:p.Leu181= | |
| ENST00000490504.5:c.372+5440C>T | ENSP00000418307.1:n.372+5440C>T | |
| NM_000532.4:c.541C>T | NP_000523.2:p.Leu181= | |
| NM_001178014.1:c.601C>T | NP_001171485.1:p.Leu201= | |
| XM_011512873.1:c.541C>T | XP_011511175.1:p.Leu181= | |
| XM_011512873.2:c.541C>T | XP_011511175.1:p.Leu181= | |
| NM_000532.5:c.541C>T MANE Select | NP_000523.2:p.Leu181= | |
| NM_001178014.2:c.601C>T | NP_001171485.1:p.Leu201= |