Linked Data
dbSNP Id:
rs919200156
gnomAD v2:
5-6651665-C-T
gnomAD v3:
5-6651552-C-T
gnomAD v4:
5-6651552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6651552C>T , CM000667.2:g.6651552C>T | GRCh38 |
| NC_000005.9:g.6651665C>T , CM000667.1:g.6651665C>T | GRCh37 |
| NC_000005.8:g.6704665C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504286.2:c.294-290C>T | ENSP00000518753.1:n.294-290C>T | |
| ENST00000510531.6:c.*415-290C>T | ENSP00000425330.1:n.*415-290C>T | |
| ENST00000274192.7:c.294-290C>T MANE Select | ENSP00000274192.5:n.294-290C>T | |
| ENST00000274192.6:c.294-290C>T | ENSP00000274192.5:n.294-290C>T | |
| ENST00000504286.1:n.415-290C>T | ||
| ENST00000510531.5:c.*415-290C>T | ENSP00000425330.1:n.*415-290C>T | |
| ENST00000513117.1:c.294-4526C>T | ENSP00000421342.1:n.294-4526C>T | |
| NM_001047.2:c.294-290C>T | NP_001038.1:n.294-290C>T | |
| XM_011514103.1:c.320-4526C>T | XP_011512405.1:n.320-4526C>T | |
| NM_001047.3:c.294-290C>T | NP_001038.1:n.294-290C>T | |
| NM_001324322.1:c.320-4526C>T | NP_001311251.1:n.320-4526C>T | |
| NM_001324323.1:c.75-290C>T | NP_001311252.1:n.75-290C>T | |
| NR_136739.1:n.549-290C>T | ||
| NM_001047.4:c.294-290C>T MANE Select | NP_001038.1:n.294-290C>T | |
| NM_001324322.2:c.320-4526C>T | NP_001311251.1:n.320-4526C>T | |
| NM_001324323.2:c.75-290C>T | NP_001311252.1:n.75-290C>T | |
| NR_136739.2:n.431-290C>T |