Linked Data
ClinVar Variation Id:
523432
ClinVar RCV Id:
RCV000626793
dbSNP Id:
rs1175075312
gnomAD v2:
5-1878471-G-A
gnomAD v3:
5-1878357-G-A
gnomAD v4:
5-1878357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1878357G>A , CM000667.2:g.1878357G>A | GRCh38 |
| NC_000005.9:g.1878471G>A , CM000667.1:g.1878471G>A | GRCh37 |
| NC_000005.8:g.1931471G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231357.7:c.1172C>T MANE Select | ENSP00000231357.2:p.Pro391Leu | |
| ENST00000231357.6:c.1172C>T | ENSP00000231357.2:p.Pro391Leu | |
| ENST00000505790.5:c.1172C>T | ENSP00000423161.1:p.Pro391Leu | |
| ENST00000508261.5:c.*619C>T | ENSP00000422462.1:n.*619C>T | |
| ENST00000513692.5:c.1172C>T | ENSP00000424235.1:p.Pro391Leu | |
| ENST00000613726.4:c.1250C>T | ENSP00000482393.1:p.Pro417Leu | |
| ENST00000622814.4:c.1250C>T | ENSP00000481396.1:p.Pro417Leu | |
| NM_001278632.1:c.1172C>T | NP_001265561.1:p.Pro391Leu | |
| NM_001278633.1:c.1250C>T | NP_001265562.1:p.Pro417Leu | |
| NM_001278634.1:c.1172C>T | NP_001265563.1:p.Pro391Leu | |
| NM_001278635.1:c.1250C>T | NP_001265564.1:p.Pro417Leu | |
| NM_016358.2:c.1172C>T | NP_057442.1:p.Pro391Leu | |
| NM_016358.3:c.1172C>T MANE Select | NP_057442.1:p.Pro391Leu | |
| NM_001278634.2:c.1172C>T | NP_001265563.1:p.Pro391Leu | |
| NM_001278635.2:c.1250C>T | NP_001265564.1:p.Pro417Leu |