Linked Data
ClinVar Variation Id:
2555150
ClinVar RCV Id:
RCV004324923
dbSNP Id:
rs1444560109
gnomAD v3:
10-130136473-C-T
gnomAD v4:
10-130136473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.130136473C>T , CM000672.2:g.130136473C>T | GRCh38 |
| NC_000010.10:g.131934737C>T , CM000672.1:g.131934737C>T | GRCh37 |
| NC_000010.9:g.131824727C>T | NCBI36 |
| NG_029886.1:g.5099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331244.10:c.53C>T MANE Select | ENSP00000330836.5:p.Ser18Leu | |
| ENST00000331244.9:c.53C>T | ENSP00000330836.5:p.Ser18Leu | |
| ENST00000368644.5:c.53C>T | ENSP00000357633.1:p.Ser18Leu | |
| ENST00000481034.1:c.53C>T | ENSP00000435445.1:p.Ser18Leu | |
| NM_001199868.1:c.53C>T | NP_001186797.1:p.Ser18Leu | |
| NM_006541.4:c.53C>T | NP_006532.2:p.Ser18Leu | |
| XM_005252657.1:c.-475C>T | XP_005252714.1:n.-475C>T | |
| NM_001321980.1:c.-475C>T | NP_001308909.1:n.-475C>T | |
| XM_017015474.1:c.-475C>T | XP_016870963.1:n.-475C>T | |
| NM_006541.5:c.53C>T MANE Select | NP_006532.2:p.Ser18Leu | |
| NM_001199868.2:c.53C>T | NP_001186797.1:p.Ser18Leu | |
| NM_001321980.2:c.-475C>T | NP_001308909.1:n.-475C>T |