Linked Data
ClinVar Variation Id:
216959
ClinVar RCV Id:
RCV002247625
dbSNP Id:
rs56160159
ExAC:
5:56155678 C / T
gnomAD v2:
5-56155678-C-T
gnomAD v3:
5-56859851-C-T
gnomAD v4:
5-56859851-C-T
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859851C>T , CM000667.2:g.56859851C>T | GRCh38 |
| NC_000005.9:g.56155678C>T , CM000667.1:g.56155678C>T | GRCh37 |
| NC_000005.8:g.56191435C>T | NCBI36 |
| NG_031884.1:g.49779C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399503.4:c.770C>T MANE Select | ENSP00000382423.3:p.Pro257Leu | |
| ENST00000399503.3:c.770C>T | ENSP00000382423.3:p.Pro257Leu | |
| NM_005921.1:c.770C>T | NP_005912.1:p.Pro257Leu | |
| XM_005248519.3:c.392C>T | XP_005248576.2:p.Pro131Leu | |
| XM_011543406.1:c.515C>T | XP_011541708.1:p.Pro172Leu | |
| XM_011543407.1:c.770C>T | XP_011541709.1:p.Pro257Leu | |
| XM_011543408.1:c.770C>T | XP_011541710.1:p.Pro257Leu | |
| XM_017009484.1:c.359C>T | XP_016864973.1:p.Pro120Leu | |
| XM_017009485.1:c.281C>T | XP_016864974.1:p.Pro94Leu | |
| XR_001742068.2:n.801C>T | ||
| NM_005921.2:c.770C>T MANE Select | NP_005912.1:p.Pro257Leu |