Linked Data
ClinVar Variation Id:
6331
dbSNP Id:
rs121908643
ExAC:
9:133327668 C / T
gnomAD v2:
9-133327668-C-T
gnomAD v3:
9-130452281-C-T
gnomAD v4:
9-130452281-C-T
PubMed:
PMID:1943692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452281C>T , CM000671.2:g.130452281C>T | GRCh38 |
| NC_000009.11:g.133327668C>T , CM000671.1:g.133327668C>T | GRCh37 |
| NC_000009.10:g.132317489C>T | NCBI36 |
| NG_011542.1:g.12575C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.53C>T MANE Select | ENSP00000253004.6:p.Ser18Leu | |
| ENST00000352480.9:c.53C>T | ENSP00000253004.6:p.Ser18Leu | |
| ENST00000372393.7:c.53C>T | ENSP00000361469.2:p.Ser18Leu | |
| ENST00000372394.5:c.53C>T | ENSP00000361471.1:p.Ser18Leu | |
| ENST00000422569.5:c.53C>T | ENSP00000394212.1:p.Ser18Leu | |
| ENST00000443588.1:c.53C>T | ENSP00000397785.1:p.Ser18Leu | |
| NM_000050.4:c.53C>T | NP_000041.2:p.Ser18Leu | |
| NM_054012.3:c.53C>T | NP_446464.1:p.Ser18Leu | |
| XM_005272200.2:c.53C>T | XP_005272257.1:p.Ser18Leu | |
| XM_011518705.1:c.167C>T | XP_011517007.1:p.Ser56Leu | |
| XM_005272200.3:c.53C>T | XP_005272257.1:p.Ser18Leu | |
| XM_011518705.2:c.167C>T | XP_011517007.1:p.Ser56Leu | |
| XM_017014729.1:c.149C>T | XP_016870218.1:p.Ser50Leu | |
| NM_054012.4:c.53C>T MANE Select | NP_446464.1:p.Ser18Leu |