Linked Data
ClinVar Variation Id:
208369
ClinVar RCV Id:
RCV000655880
dbSNP Id:
rs797044969
gnomAD v4:
1-40819911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819911C>T , CM000663.2:g.40819911C>T | GRCh38 |
| NC_000001.10:g.41285583C>T , CM000663.1:g.41285583C>T | GRCh37 |
| NC_000001.9:g.41058170C>T | NCBI36 |
| NG_008139.1:g.40900C>T | |
| NG_008139.2:g.40900C>T | |
| NG_008139.3:g.41125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.871C>T MANE Select | ENSP00000262916.6:p.Pro291Ser | |
| ENST00000347132.9:c.871C>T | ENSP00000262916.6:p.Pro291Ser | |
| ENST00000443478.3:c.557C>T | ||
| ENST00000506017.1:n.190C>T | ||
| ENST00000509682.6:c.871C>T | ENSP00000423756.2:p.Pro291Ser | |
| NM_004700.3:c.871C>T | NP_004691.2:p.Pro291Ser | |
| NM_172163.2:c.871C>T | NP_751895.1:p.Pro291Ser | |
| XM_011542417.1:c.871C>T | XP_011540719.1:p.Pro291Ser | |
| XM_011542418.1:c.871C>T | XP_011540720.1:p.Pro291Ser | |
| XM_011542419.1:c.871C>T | XP_011540721.1:p.Pro291Ser | |
| XM_011542420.1:c.871C>T | XP_011540722.1:p.Pro291Ser | |
| XR_946798.1:n.877C>T | ||
| XR_946799.1:n.877C>T | ||
| XR_946800.1:n.877C>T | ||
| XM_017002792.1:c.-147C>T | XP_016858281.1:n.-147C>T | |
| NM_004700.4:c.871C>T MANE Select | NP_004691.2:p.Pro291Ser | |
| NM_172163.3:c.871C>T | NP_751895.1:p.Pro291Ser |