Linked Data
ClinVar Variation Id:
2989674
ClinVar RCV Id:
RCV003842305
dbSNP Id:
rs2084959719
gnomAD v3:
17-19661108-C-T
gnomAD v4:
17-19661108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19661108C>T , CM000679.2:g.19661108C>T | GRCh38 |
| NC_000017.10:g.19564421C>T , CM000679.1:g.19564421C>T | GRCh37 |
| NC_000017.9:g.19505013C>T | NCBI36 |
| NG_007095.2:g.17358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.799-19C>T MANE Select | ENSP00000176643.6:n.799-19C>T | |
| ENST00000395575.7:c.472-19C>T | ENSP00000378942.3:n.472-19C>T | |
| ENST00000472059.6:c.*357-19C>T | ENSP00000458397.1:n.*357-19C>T | |
| ENST00000574078.3:n.128-19C>T | ||
| ENST00000581518.6:c.799-19C>T | ENSP00000461916.2:n.799-19C>T | |
| ENST00000582991.6:c.799-19C>T | ENSP00000464153.1:n.799-19C>T | |
| ENST00000671841.1:n.2478-19C>T | ||
| ENST00000671878.1:c.799-19C>T | ENSP00000500516.1:n.799-19C>T | |
| ENST00000672059.1:n.1250-19C>T | ||
| ENST00000672357.1:c.799-19C>T | ENSP00000500092.1:n.799-19C>T | |
| ENST00000672465.1:c.799-19C>T | ENSP00000500517.1:n.799-19C>T | |
| ENST00000672487.1:c.681-19C>T | ENSP00000500740.1:n.681-19C>T | |
| ENST00000672564.1:n.1020-19C>T | ||
| ENST00000672567.1:c.690-19C>T | ||
| ENST00000672608.1:n.1788-19C>T | ||
| ENST00000672709.1:c.653-19C>T | ||
| ENST00000673064.1:n.1280C>T | ||
| ENST00000673136.1:c.799-19C>T | ENSP00000500380.1:n.799-19C>T | |
| ENST00000673472.1:n.1135-19C>T | ||
| ENST00000673516.1:n.1240C>T | ||
| ENST00000176643.10:c.799-19C>T | ENSP00000176643.6:n.799-19C>T | |
| ENST00000339618.8:c.799-19C>T | ENSP00000345774.4:n.799-19C>T | |
| ENST00000395575.6:c.799-19C>T | ENSP00000378942.2:n.799-19C>T | |
| ENST00000472059.5:c.*357-19C>T | ENSP00000458397.1:n.*357-19C>T | |
| ENST00000476965.5:n.549-19C>T | ||
| ENST00000571537.1:c.292-19C>T | ENSP00000458942.1:n.292-19C>T | |
| ENST00000574078.2:n.128-19C>T | ||
| ENST00000578696.1:c.230-19C>T | ||
| ENST00000579855.5:c.799-19C>T | ENSP00000463637.1:n.799-19C>T | |
| ENST00000581518.5:c.799-19C>T | ENSP00000461916.1:n.799-19C>T | |
| ENST00000582991.5:c.799-19C>T | ENSP00000464153.1:n.799-19C>T | |
| ENST00000630662.2:c.-183-19C>T | ENSP00000487353.1:n.-183-19C>T | |
| ENST00000631291.2:c.799-19C>T | ENSP00000486085.1:n.799-19C>T | |
| NM_000382.2:c.799-19C>T | NP_000373.1:n.799-19C>T | |
| NM_001031806.1:c.799-19C>T | NP_001026976.1:n.799-19C>T | |
| XM_011523732.1:c.799-19C>T | XP_011522034.1:n.799-19C>T | |
| XM_011523733.1:c.799-19C>T | XP_011522035.1:n.799-19C>T | |
| XM_011523733.2:c.799-19C>T | XP_011522035.1:n.799-19C>T | |
| XM_017024355.1:c.799-19C>T | XP_016879844.1:n.799-19C>T | |
| XM_017024356.2:c.799-19C>T | XP_016879845.1:n.799-19C>T | |
| XM_017024357.1:c.799-19C>T | XP_016879846.1:n.799-19C>T | |
| XM_017024358.2:c.799-19C>T | XP_016879847.1:n.799-19C>T | |
| XM_024450651.1:c.220-19C>T | XP_024306419.1:n.220-19C>T | |
| XM_024450652.1:c.220-19C>T | XP_024306420.1:n.220-19C>T | |
| NM_000382.3:c.799-19C>T MANE Select | NP_000373.1:n.799-19C>T | |
| NM_001031806.2:c.799-19C>T | NP_001026976.1:n.799-19C>T | |
| NM_001369136.1:c.799-19C>T | NP_001356065.1:n.799-19C>T | |
| NM_001369137.1:c.799-19C>T | NP_001356066.1:n.799-19C>T | |
| NM_001369138.1:c.799-19C>T | NP_001356067.1:n.799-19C>T | |
| NM_001369139.1:c.799-19C>T | NP_001356068.1:n.799-19C>T | |
| NM_001369146.1:c.799-19C>T | NP_001356075.1:n.799-19C>T | |
| NM_001369148.1:c.220-19C>T | NP_001356077.1:n.220-19C>T | |
| NM_001369137.2:c.799-19C>T | NP_001356066.1:n.799-19C>T | |
| NM_001369138.2:c.799-19C>T | NP_001356067.1:n.799-19C>T | |
| NM_001369146.2:c.799-19C>T | NP_001356075.1:n.799-19C>T | |
| NM_001369148.2:c.220-19C>T | NP_001356077.1:n.220-19C>T |