Linked Data
ClinVar Variation Id:
332515
dbSNP Id:
rs182602770
ExAC:
2:178301795 C / T
gnomAD v2:
2-178301795-C-T
gnomAD v3:
2-177437067-C-T
gnomAD v4:
2-177437067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177437067C>T , CM000664.2:g.177437067C>T | GRCh38 |
| NC_000002.11:g.178301795C>T , CM000664.1:g.178301795C>T | GRCh37 |
| NC_000002.10:g.178010041C>T | NCBI36 |
| NG_008968.1:g.49325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.637+13C>T MANE Select | ENSP00000264167.4:n.637+13C>T | |
| ENST00000460342.2:n.679+13C>T | ||
| ENST00000637633.2:c.637+13C>T | ENSP00000490844.2:n.637+13C>T | |
| ENST00000642466.2:c.637+13C>T | ENSP00000494433.2:n.637+13C>T | |
| ENST00000679421.1:n.667+13C>T | ||
| ENST00000679459.1:c.637+13C>T | ENSP00000506137.1:n.637+13C>T | |
| ENST00000679478.1:c.367+13C>T | ENSP00000506484.1:n.367+13C>T | |
| ENST00000679639.1:n.440+13C>T | ||
| ENST00000679994.1:c.367+13C>T | ENSP00000504957.1:n.367+13C>T | |
| ENST00000680028.1:n.802+13C>T | ||
| ENST00000680155.1:c.367+13C>T | ENSP00000505333.1:n.367+13C>T | |
| ENST00000680677.1:n.667+13C>T | ||
| ENST00000680705.1:n.681+13C>T | ||
| ENST00000680770.1:c.637+13C>T | ENSP00000505536.1:n.637+13C>T | |
| ENST00000680893.1:c.637+13C>T | ENSP00000505929.1:n.637+13C>T | |
| ENST00000680910.1:n.667+13C>T | ||
| ENST00000681028.1:c.367+13C>T | ENSP00000506323.1:n.367+13C>T | |
| ENST00000681032.1:c.637+13C>T | ENSP00000505205.1:n.637+13C>T | |
| ENST00000681449.1:c.367+13C>T | ENSP00000505342.1:n.367+13C>T | |
| ENST00000681565.1:c.637+13C>T | ENSP00000505620.1:n.637+13C>T | |
| ENST00000681752.1:c.*407+13C>T | ENSP00000504994.1:n.*407+13C>T | |
| ENST00000681891.1:n.3011+13C>T | ||
| ENST00000264167.8:c.637+13C>T | ENSP00000264167.4:n.637+13C>T | |
| ENST00000409888.1:c.350+16709C>T | ENSP00000386688.1:n.350+16709C>T | |
| ENST00000460342.1:n.71+13C>T | ||
| NM_003659.3:c.637+13C>T | NP_003650.1:n.637+13C>T | |
| XM_011512041.1:c.367+13C>T | XP_011510343.1:n.367+13C>T | |
| XM_011512042.1:c.367+13C>T | XP_011510344.1:n.367+13C>T | |
| XM_011512044.1:c.637+13C>T | XP_011510346.1:n.637+13C>T | |
| XM_011512045.1:c.637+13C>T | XP_011510347.1:n.637+13C>T | |
| XM_011512041.2:c.367+13C>T | XP_011510343.1:n.367+13C>T | |
| XM_011512043.2:c.-1298+13C>T | XP_011510345.1:n.-1298+13C>T | |
| XR_001739007.2:n.654+13C>T | ||
| NM_003659.4:c.637+13C>T MANE Select | NP_003650.1:n.637+13C>T |