Linked Data
ClinVar Variation Id:
8571
dbSNP Id:
rs121912573
gnomAD v4:
4-148152526-G-A
COSMIC:
COSM276388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148152526G>A , CM000666.2:g.148152526G>A | GRCh38 |
| NC_000004.11:g.149073677G>A , CM000666.1:g.149073677G>A | GRCh37 |
| NC_000004.10:g.149293127G>A | NCBI36 |
| NG_013350.1:g.294996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2453C>T MANE Select | ENSP00000350815.3:p.Ser818Leu | |
| ENST00000342437.8:c.2015-32238C>T | ENSP00000343907.4:n.2015-32238C>T | |
| ENST00000344721.8:c.2453C>T | ENSP00000341390.4:p.Ser818Leu | |
| ENST00000358102.7:c.2453C>T | ENSP00000350815.3:p.Ser818Leu | |
| ENST00000503174.1:n.382C>T | ||
| ENST00000503313.1:n.650C>T | ||
| ENST00000511528.1:c.2465C>T | ENSP00000421481.1:p.Ser822Leu | |
| ENST00000512865.5:c.2102C>T | ENSP00000423510.1:p.Ser701Leu | |
| ENST00000625323.2:c.2465C>T | ENSP00000486719.1:p.Ser822Leu | |
| NM_000901.4:c.2453C>T | NP_000892.2:p.Ser818Leu | |
| NM_001166104.1:c.2102C>T | NP_001159576.1:p.Ser701Leu | |
| XM_011531975.1:c.2465C>T | XP_011530277.1:p.Ser822Leu | |
| XM_011531976.1:c.2465C>T | XP_011530278.1:p.Ser822Leu | |
| XM_011531977.1:c.2465C>T | XP_011530279.1:p.Ser822Leu | |
| XM_011531978.1:c.2465C>T | XP_011530280.1:p.Ser822Leu | |
| NM_001354819.1:c.2102C>T | NP_001341748.1:p.Ser701Leu | |
| NR_148974.1:n.2378-32238C>T | ||
| XM_011531978.2:c.2465C>T | XP_011530280.1:p.Ser822Leu | |
| NM_000901.5:c.2453C>T MANE Select | NP_000892.2:p.Ser818Leu | |
| NM_001166104.2:c.2102C>T | NP_001159576.1:p.Ser701Leu | |
| NR_148974.2:n.2272-32238C>T |