Linked Data
ClinVar Variation Id:
2079623
ClinVar RCV Id:
RCV002982905
dbSNP Id:
rs765685308
ExAC:
2:112705055 C / T
gnomAD v2:
2-112705055-C-T
gnomAD v3:
2-111947478-C-T
gnomAD v4:
2-111947478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111947478C>T , CM000664.2:g.111947478C>T | GRCh38 |
| NC_000002.11:g.112705055C>T , CM000664.1:g.112705055C>T | GRCh37 |
| NC_000002.10:g.112421526C>T | NCBI36 |
| NG_011607.1:g.53865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.668C>T MANE Select | ENSP00000295408.4:p.Pro223Leu | |
| ENST00000295408.8:c.668C>T | ENSP00000295408.4:p.Pro223Leu | |
| ENST00000409780.5:c.140C>T | ENSP00000387277.1:p.Pro47Leu | |
| ENST00000421804.6:c.668C>T | ENSP00000389152.2:p.Pro223Leu | |
| ENST00000439966.5:c.*141C>T | ENSP00000402129.1:n.*141C>T | |
| ENST00000616902.4:c.-548C>T | ENSP00000482824.1:n.-548C>T | |
| NM_006343.2:c.668C>T | NP_006334.2:p.Pro223Leu | |
| XM_005263565.3:c.668C>T | XP_005263622.1:p.Pro223Leu | |
| XM_005263568.3:c.668C>T | XP_005263625.1:p.Pro223Leu | |
| XM_011510490.1:c.479C>T | XP_011508792.1:p.Pro160Leu | |
| XM_005263565.4:c.668C>T | XP_005263622.1:p.Pro223Leu | |
| XM_005263568.4:c.668C>T | XP_005263625.1:p.Pro223Leu | |
| XM_011510490.3:c.479C>T | XP_011508792.1:p.Pro160Leu | |
| XM_017003164.1:c.479C>T | XP_016858653.1:p.Pro160Leu | |
| XM_017003165.2:c.-600C>T | XP_016858654.1:n.-600C>T | |
| NM_006343.3:c.668C>T MANE Select | NP_006334.2:p.Pro223Leu |