Linked Data
dbSNP Id:
rs146133899
gnomAD v2:
2-263197-G-A
gnomAD v3:
2-263197-G-A
gnomAD v4:
2-263197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.263197G>A , CM000664.2:g.263197G>A | GRCh38 |
| NC_000002.11:g.263197G>A , CM000664.1:g.263197G>A | GRCh37 |
| NC_000002.10:g.253197G>A | NCBI36 |
| NG_012035.1:g.3329G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356150.10:c.1+787C>T MANE Select | ENSP00000348471.5:n.1+787C>T | |
| ENST00000356150.9:c.1+787C>T | ENSP00000348471.5:n.1+787C>T | |
| ENST00000402632.5:c.-155-411C>T | ENSP00000384910.1:n.-155-411C>T | |
| ENST00000403658.5:c.-422+1585C>T | ENSP00000383928.1:n.-422+1585C>T | |
| ENST00000403712.6:c.1+787C>T | ENSP00000384276.1:n.1+787C>T | |
| ENST00000405430.5:c.-120+14C>T | ENSP00000384269.1:n.-120+14C>T | |
| ENST00000415368.5:c.-156+14C>T | ENSP00000410235.1:n.-156+14C>T | |
| ENST00000454318.1:c.-362+1585C>T | ENSP00000415723.1:n.-362+1585C>T | |
| ENST00000462719.1:n.106-2477C>T | ||
| ENST00000463865.5:n.309+887C>T | ||
| ENST00000465733.5:n.191+14C>T | ||
| ENST00000468321.5:n.42-411C>T | ||
| ENST00000471948.5:n.773+14C>T | ||
| ENST00000472861.1:n.191+14C>T | ||
| ENST00000475027.5:n.29+1585C>T | ||
| ENST00000477707.5:n.390+14C>T | ||
| ENST00000488044.5:n.85+1585C>T | ||
| ENST00000488979.6:n.27+1345C>T | ||
| ENST00000626873.2:c.-556+947C>T | ENSP00000485824.1:n.-556+947C>T | |
| NM_001159597.2:c.1+787C>T | NP_001153069.1:n.1+787C>T | |
| NM_001282682.1:c.-422+1585C>T | NP_001269611.1:n.-422+1585C>T | |
| NM_015677.3:c.1+787C>T | NP_056492.2:n.1+787C>T | |
| NR_104223.1:n.42-411C>T | ||
| NR_104224.1:n.86-411C>T | ||
| NR_104225.1:n.309+887C>T | ||
| NM_015677.4:c.1+787C>T MANE Select | NP_056492.2:n.1+787C>T | |
| NR_104224.2:n.44-411C>T | ||
| NM_001159597.3:c.1+787C>T | NP_001153069.1:n.1+787C>T | |
| NM_001282682.2:c.-422+1585C>T | NP_001269611.1:n.-422+1585C>T | |
| NR_104223.2:n.42-411C>T | ||
| NR_104224.3:n.44-411C>T |