Linked Data
dbSNP Id:
rs1051653567
gnomAD v2:
2-263372-C-T
gnomAD v3:
2-263372-C-T
gnomAD v4:
2-263372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.263372C>T , CM000664.2:g.263372C>T | GRCh38 |
| NC_000002.11:g.263372C>T , CM000664.1:g.263372C>T | GRCh37 |
| NC_000002.10:g.253372C>T | NCBI36 |
| NG_012035.1:g.3504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356150.10:c.1+612G>A MANE Select | ENSP00000348471.5:n.1+612G>A | |
| ENST00000356150.9:c.1+612G>A | ENSP00000348471.5:n.1+612G>A | |
| ENST00000402632.5:c.-155-586G>A | ENSP00000384910.1:n.-155-586G>A | |
| ENST00000403658.5:c.-422+1410G>A | ENSP00000383928.1:n.-422+1410G>A | |
| ENST00000403712.6:c.1+612G>A | ENSP00000384276.1:n.1+612G>A | |
| ENST00000405430.5:c.-281G>A | ENSP00000384269.1:n.-281G>A | |
| ENST00000415368.5:c.-313-4G>A | ENSP00000410235.1:n.-313-4G>A | |
| ENST00000454318.1:c.-362+1410G>A | ENSP00000415723.1:n.-362+1410G>A | |
| ENST00000462719.1:n.106-2652G>A | ||
| ENST00000463865.5:n.309+712G>A | ||
| ENST00000465733.5:n.30G>A | ||
| ENST00000468321.5:n.42-586G>A | ||
| ENST00000471948.5:n.612G>A | ||
| ENST00000472861.1:n.30G>A | ||
| ENST00000475027.5:n.29+1410G>A | ||
| ENST00000477707.5:n.229G>A | ||
| ENST00000488044.5:n.85+1410G>A | ||
| ENST00000488979.6:n.27+1170G>A | ||
| ENST00000626873.2:c.-556+772G>A | ENSP00000485824.1:n.-556+772G>A | |
| NM_001159597.2:c.1+612G>A | NP_001153069.1:n.1+612G>A | |
| NM_001282682.1:c.-422+1410G>A | NP_001269611.1:n.-422+1410G>A | |
| NM_015677.3:c.1+612G>A | NP_056492.2:n.1+612G>A | |
| NR_104223.1:n.42-586G>A | ||
| NR_104224.1:n.86-586G>A | ||
| NR_104225.1:n.309+712G>A | ||
| NM_015677.4:c.1+612G>A MANE Select | NP_056492.2:n.1+612G>A | |
| NR_104224.2:n.44-586G>A | ||
| NM_001159597.3:c.1+612G>A | NP_001153069.1:n.1+612G>A | |
| NM_001282682.2:c.-422+1410G>A | NP_001269611.1:n.-422+1410G>A | |
| NR_104223.2:n.42-586G>A | ||
| NR_104224.3:n.44-586G>A |