Linked Data
ClinVar Variation Id:
351979
dbSNP Id:
rs147000954
ExAC:
5:149240473 G / A
gnomAD v2:
5-149240473-G-A
gnomAD v3:
5-149860910-G-A
gnomAD v4:
5-149860910-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149860910G>A , CM000667.2:g.149860910G>A | GRCh38 |
| NC_000005.9:g.149240473G>A , CM000667.1:g.149240473G>A | GRCh37 |
| NC_000005.8:g.149220666G>A | NCBI36 |
| NG_009102.1:g.88884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.2568C>T MANE Select | ENSP00000255266.5:p.Ser856= | |
| ENST00000255266.9:c.2568C>T | ENSP00000255266.5:p.Ser856= | |
| ENST00000508173.5:n.2752C>T | ||
| ENST00000512670.1:n.1933C>T | ||
| ENST00000613228.1:c.2325C>T | ENSP00000478060.1:p.Ser775= | |
| ENST00000617647.4:c.2325C>T | ENSP00000482774.1:p.Ser775= | |
| NM_000440.2:c.2568C>T | NP_000431.2:p.Ser856= | |
| XM_011537648.1:c.2568C>T | XP_011535950.1:p.Ser856= | |
| XM_011537649.1:c.2022C>T | XP_011535951.1:p.Ser674= | |
| XM_011537650.1:c.1683C>T | XP_011535952.1:p.Ser561= | |
| XM_011537651.1:c.1521C>T | XP_011535953.1:p.Ser507= | |
| XM_011537652.1:c.1491C>T | XP_011535954.1:p.Ser497= | |
| XM_011537653.1:c.1491C>T | XP_011535955.1:p.Ser497= | |
| XM_011537654.1:c.1491C>T | XP_011535956.1:p.Ser497= | |
| XM_011537650.2:c.1683C>T | XP_011535952.1:p.Ser561= | |
| XM_011537651.2:c.1521C>T | XP_011535953.1:p.Ser507= | |
| XM_011537653.2:c.1491C>T | XP_011535955.1:p.Ser497= | |
| XM_011537654.2:c.1491C>T | XP_011535956.1:p.Ser497= | |
| XM_017009572.2:c.2325C>T | XP_016865061.1:p.Ser775= | |
| NM_000440.3:c.2568C>T MANE Select | NP_000431.2:p.Ser856= |