Linked Data
ClinVar Variation Id:
2649764
ClinVar RCV Id:
RCV003429172
dbSNP Id:
rs149994724
ExAC:
19:36593865 C / T
gnomAD v2:
19-36593865-C-T
gnomAD v3:
19-36102963-C-T
gnomAD v4:
19-36102963-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102963C>T , CM000681.2:g.36102963C>T | GRCh38 |
| NC_000019.9:g.36593865C>T , CM000681.1:g.36593865C>T | GRCh37 |
| NC_000019.8:g.41285705C>T | NCBI36 |
| NG_028101.1:g.53083C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3336C>T | ENSP00000270301.6:p.Phe1112= | |
| ENST00000401500.7:c.3351C>T MANE Select | ENSP00000384792.1:p.Phe1117= | |
| ENST00000587391.6:c.*3211C>T | ENSP00000465525.1:n.*3211C>T | |
| ENST00000679357.1:c.1431C>T | ||
| ENST00000679598.1:c.116C>T | ||
| ENST00000679682.1:c.3336C>T | ENSP00000506226.1:p.Phe1112= | |
| ENST00000679714.1:c.3345C>T | ENSP00000506627.1:p.Phe1115= | |
| ENST00000679757.1:c.3000C>T | ENSP00000505158.1:p.Phe1000= | |
| ENST00000679858.1:c.*2733C>T | ENSP00000505655.1:n.*2733C>T | |
| ENST00000680211.1:c.-49C>T | ENSP00000506102.1:n.-49C>T | |
| ENST00000680280.1:n.638C>T | ||
| ENST00000680349.1:n.1919C>T | ||
| ENST00000680403.1:c.3336C>T | ENSP00000505677.1:p.Phe1112= | |
| ENST00000680564.1:c.3102C>T | ENSP00000505582.1:p.Phe1034= | |
| ENST00000680590.1:c.*1731C>T | ENSP00000505350.1:n.*1731C>T | |
| ENST00000680597.1:c.116C>T | ||
| ENST00000680739.1:c.366C>T | ||
| ENST00000680773.1:n.1852C>T | ||
| ENST00000680806.1:c.*2654C>T | ENSP00000506418.1:n.*2654C>T | |
| ENST00000680997.1:n.1283C>T | ||
| ENST00000681608.1:n.980C>T | ||
| ENST00000681625.1:c.*683C>T | ENSP00000505555.1:n.*683C>T | |
| ENST00000681648.1:n.650C>T | ||
| ENST00000270301.11:c.3336C>T | ENSP00000270301.6:p.Phe1112= | |
| ENST00000401500.6:c.3351C>T | ENSP00000384792.1:p.Phe1117= | |
| ENST00000587391.5:c.*3211C>T | ENSP00000465525.1:n.*3211C>T | |
| NM_001083961.1:c.3351C>T | NP_001077430.1:p.Phe1117= | |
| NM_173636.4:c.3336C>T | NP_775907.4:p.Phe1112= | |
| XM_005258809.2:c.3240C>T | XP_005258866.1:p.Phe1080= | |
| XM_011526837.1:c.3336C>T | XP_011525139.1:p.Phe1112= | |
| XM_011526838.1:c.3102C>T | XP_011525140.1:p.Phe1034= | |
| XM_011526839.1:c.3000C>T | XP_011525141.1:p.Phe1000= | |
| XM_011526840.1:c.2343C>T | XP_011525142.1:p.Phe781= | |
| XM_011526841.1:c.1929C>T | XP_011525143.1:p.Phe643= | |
| XM_011526842.1:c.1782C>T | XP_011525144.1:p.Phe594= | |
| XM_011526843.1:c.1098C>T | XP_011525145.1:p.Phe366= | |
| XM_011526844.1:c.1098C>T | XP_011525146.1:p.Phe366= | |
| XM_011526840.2:c.2343C>T | XP_011525142.1:p.Phe781= | |
| XM_011526841.2:c.1929C>T | XP_011525143.1:p.Phe643= | |
| XM_011526844.2:c.1098C>T | XP_011525146.1:p.Phe366= | |
| XM_017026665.1:c.3351C>T | XP_016882154.1:p.Phe1117= | |
| NM_001083961.2:c.3351C>T MANE Select | NP_001077430.1:p.Phe1117= | |
| NM_173636.5:c.3336C>T | NP_775907.4:p.Phe1112= |