Linked Data
ClinVar Variation Id:
44324
dbSNP Id:
rs374875442
ExAC:
18:29102103 C / T
gnomAD v2:
18-29102103-C-T
gnomAD v3:
18-31522140-C-T
gnomAD v4:
18-31522140-C-T
COSMIC:
COSM3525243
PubMed:
PMID:22214898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522140C>T , CM000680.2:g.31522140C>T | GRCh38 |
| NC_000018.9:g.29102103C>T , CM000680.1:g.29102103C>T | GRCh37 |
| NC_000018.8:g.27356101C>T | NCBI36 |
| NG_007072.3:g.28899C>T , LRG_397:g.28899C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.412C>T | ||
| ENST00000682241.2:c.581C>T | ENSP00000507600.2:p.Ser194Leu | |
| ENST00000683614.2:n.412C>T | ||
| ENST00000682087.1:c.412C>T | ||
| ENST00000682241.1:c.412C>T | ||
| ENST00000683614.1:c.412C>T | ||
| ENST00000683654.1:c.581C>T | ENSP00000506971.1:p.Ser194Leu | |
| ENST00000684461.1:n.1251C>T | ||
| ENST00000261590.13:c.581C>T MANE Select | ENSP00000261590.8:p.Ser194Leu | |
| ENST00000261590.12:c.581C>T | ENSP00000261590.8:p.Ser194Leu | |
| ENST00000585206.1:c.581C>T | ENSP00000462503.1:p.Ser194Leu | |
| NM_001943.3:c.581C>T , LRG_397t1:c.581C>T | NP_001934.2:p.Ser194Leu | |
| NM_001943.4:c.581C>T | NP_001934.2:p.Ser194Leu | |
| XM_024451095.1:c.47C>T | XP_024306863.1:p.Ser16Leu | |
| NM_001943.5:c.581C>T MANE Select | NP_001934.2:p.Ser194Leu |