Linked Data
ClinVar Variation Id:
183292
ClinVar RCV Id:
RCV000162113
dbSNP Id:
rs730882207
ExAC:
5:111540150 G / A
gnomAD v2:
5-111540150-G-A
gnomAD v3:
5-112204453-G-A
gnomAD v4:
5-112204453-G-A
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112204453G>A , CM000667.2:g.112204453G>A | GRCh38 |
| NC_000005.9:g.111540150G>A , CM000667.1:g.111540150G>A | GRCh37 |
| NC_000005.8:g.111568049G>A | NCBI36 |
| NG_052950.1:g.219864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261486.6:c.1298C>T MANE Select | ENSP00000261486.5:p.Ser433Leu | |
| ENST00000261486.5:c.1298C>T | ENSP00000261486.5:p.Ser433Leu | |
| ENST00000507810.5:n.318C>T | ||
| ENST00000513333.1:n.207C>T | ||
| ENST00000515047.5:n.118C>T | ||
| ENST00000621003.4:c.1298C>T | ENSP00000482810.1:p.Ser433Leu | |
| NM_022140.3:c.1298C>T | NP_071423.3:p.Ser433Leu | |
| XM_011543530.1:c.1298C>T | XP_011541832.1:p.Ser433Leu | |
| XM_011543531.1:c.1298C>T | XP_011541833.1:p.Ser433Leu | |
| XM_011543532.1:c.1298C>T | XP_011541834.1:p.Ser433Leu | |
| XM_011543533.1:c.1214C>T | XP_011541835.1:p.Ser405Leu | |
| NM_001347887.1:c.1298C>T | NP_001334816.1:p.Ser433Leu | |
| NM_022140.4:c.1298C>T | NP_071423.4:p.Ser433Leu | |
| NR_144931.1:n.1575C>T | ||
| XM_011543531.3:c.1298C>T | XP_011541833.1:p.Ser433Leu | |
| XM_011543532.2:c.1298C>T | XP_011541834.1:p.Ser433Leu | |
| XM_011543533.2:c.1214C>T | XP_011541835.1:p.Ser405Leu | |
| XM_017009689.2:c.1214C>T | XP_016865178.1:p.Ser405Leu | |
| XR_001742173.2:n.1483C>T | ||
| NM_022140.5:c.1298C>T MANE Select | NP_071423.4:p.Ser433Leu | |
| NM_001347887.2:c.1298C>T | NP_001334816.1:p.Ser433Leu | |
| NR_144931.2:n.1536C>T |