Linked Data
dbSNP Id:
rs542339633
ExAC:
2:178385947 C / T
gnomAD v2:
2-178385947-C-T
gnomAD v3:
2-177521219-C-T
gnomAD v4:
2-177521219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177521219C>T , CM000664.2:g.177521219C>T | GRCh38 |
| NC_000002.11:g.178385947C>T , CM000664.1:g.178385947C>T | GRCh37 |
| NC_000002.10:g.178094193C>T | NCBI36 |
| NG_008968.1:g.133477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.1698-50C>T MANE Select | ENSP00000264167.4:n.1698-50C>T | |
| ENST00000637633.2:c.1698-50C>T | ENSP00000490844.2:n.1698-50C>T | |
| ENST00000642466.2:c.1698-50C>T | ENSP00000494433.2:n.1698-50C>T | |
| ENST00000679421.1:n.2927-50C>T | ||
| ENST00000679459.1:c.1698-50C>T | ENSP00000506137.1:n.1698-50C>T | |
| ENST00000679478.1:c.1428-50C>T | ENSP00000506484.1:n.1428-50C>T | |
| ENST00000679994.1:c.1428-50C>T | ENSP00000504957.1:n.1428-50C>T | |
| ENST00000680028.1:n.3062-50C>T | ||
| ENST00000680155.1:c.1428-50C>T | ENSP00000505333.1:n.1428-50C>T | |
| ENST00000680390.1:n.733-50C>T | ||
| ENST00000680770.1:c.1698-50C>T | ENSP00000505536.1:n.1698-50C>T | |
| ENST00000680893.1:c.*946-50C>T | ENSP00000505929.1:n.*946-50C>T | |
| ENST00000681028.1:c.*125-50C>T | ENSP00000506323.1:n.*125-50C>T | |
| ENST00000681032.1:c.*1076-50C>T | ENSP00000505205.1:n.*1076-50C>T | |
| ENST00000681300.1:n.653-50C>T | ||
| ENST00000681449.1:c.1428-50C>T | ENSP00000505342.1:n.1428-50C>T | |
| ENST00000681565.1:c.*831-50C>T | ENSP00000505620.1:n.*831-50C>T | |
| ENST00000681752.1:c.*1468-50C>T | ENSP00000504994.1:n.*1468-50C>T | |
| ENST00000681891.1:n.5333-50C>T | ||
| ENST00000264167.8:c.1698-50C>T | ENSP00000264167.4:n.1698-50C>T | |
| ENST00000409888.1:c.351-110C>T | ENSP00000386688.1:n.351-110C>T | |
| NM_003659.3:c.1698-50C>T | NP_003650.1:n.1698-50C>T | |
| XM_011512041.1:c.1428-50C>T | XP_011510343.1:n.1428-50C>T | |
| XM_011512042.1:c.1428-50C>T | XP_011510344.1:n.1428-50C>T | |
| XM_011512043.1:c.963-50C>T | XP_011510345.1:n.963-50C>T | |
| XM_011512041.2:c.1428-50C>T | XP_011510343.1:n.1428-50C>T | |
| XM_011512043.2:c.963-50C>T | XP_011510345.1:n.963-50C>T | |
| XR_001739007.2:n.1606-50C>T | ||
| NM_003659.4:c.1698-50C>T MANE Select | NP_003650.1:n.1698-50C>T |