Linked Data
ClinVar Variation Id:
161540
ClinVar RCV Id:
RCV000149075
dbSNP Id:
rs193920762
COSMIC:
COSM1178562
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116388207C>T , CM000663.2:g.116388207C>T | GRCh38 |
| NC_000001.10:g.116930829C>T , CM000663.1:g.116930829C>T | GRCh37 |
| NC_000001.9:g.116732352C>T | NCBI36 |
| NG_047036.1:g.21023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295598.10:c.464C>T MANE Select | ENSP00000295598.5:p.Ser155Leu | |
| ENST00000295598.9:c.464C>T | ENSP00000295598.5:p.Ser155Leu | |
| ENST00000369494.5:c.371C>T | ENSP00000358506.1:p.Ser124Leu | |
| ENST00000369496.8:c.371C>T | ENSP00000358508.4:p.Ser124Leu | |
| ENST00000463382.1:n.266C>T | ||
| ENST00000537345.5:c.464C>T | ENSP00000445306.1:p.Ser155Leu | |
| NM_000701.7:c.464C>T | NP_000692.2:p.Ser155Leu | |
| NM_001160233.1:c.464C>T | NP_001153705.1:p.Ser155Leu | |
| NM_001160234.1:c.371C>T | NP_001153706.1:p.Ser124Leu | |
| XM_006710655.2:c.371C>T | XP_006710718.1:p.Ser124Leu | |
| XM_017001360.1:c.371C>T | XP_016856849.1:p.Ser124Leu | |
| XM_017001361.1:c.371C>T | XP_016856850.1:p.Ser124Leu | |
| XR_002956654.1:n.990C>T | ||
| NM_000701.8:c.464C>T MANE Select | NP_000692.2:p.Ser155Leu | |
| NM_001160233.2:c.464C>T | NP_001153705.1:p.Ser155Leu | |
| NM_001160234.2:c.371C>T | NP_001153706.1:p.Ser124Leu |