Linked Data
ClinVar Variation Id:
449007
dbSNP Id:
rs202207627
ExAC:
17:13980185 C / T
gnomAD v2:
17-13980185-C-T
gnomAD v3:
17-14076868-C-T
gnomAD v4:
17-14076868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076868C>T , CM000679.2:g.14076868C>T | GRCh38 |
| NC_000017.10:g.13980185C>T , CM000679.1:g.13980185C>T | GRCh37 |
| NC_000017.9:g.13920910C>T | NCBI36 |
| NG_008034.1:g.12467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.311C>T MANE Select | ENSP00000261643.3:p.Pro104Leu | |
| ENST00000664217.1:c.311C>T | ENSP00000499396.1:p.Pro104Leu | |
| ENST00000670279.1:c.311C>T | ENSP00000499450.1:p.Pro104Leu | |
| ENST00000261643.7:c.311C>T | ENSP00000261643.3:p.Pro104Leu | |
| ENST00000429152.6:c.311C>T | ENSP00000397750.2:p.Pro104Leu | |
| ENST00000580561.1:c.177+2412C>T | ENSP00000462190.1:n.177+2412C>T | |
| ENST00000581931.5:c.311C>T | ENSP00000462512.1:p.Pro104Leu | |
| NM_001303.3:c.311C>T | NP_001294.2:p.Pro104Leu | |
| XM_005256458.1:c.311C>T | XP_005256515.1:p.Pro104Leu | |
| XM_011523657.1:c.311C>T | XP_011521959.1:p.Pro104Leu | |
| XM_011523658.1:c.-141C>T | XP_011521960.1:n.-141C>T | |
| XR_933974.1:n.414C>T | ||
| XR_933975.1:n.414C>T | ||
| NM_001303.4:c.311C>T MANE Select | NP_001294.2:p.Pro104Leu |