Linked Data
dbSNP Id:
rs37062
gnomAD v2:
16-58567238-A-G
gnomAD v3:
16-58533334-A-G
gnomAD v4:
16-58533334-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58533334A>G , CM000678.2:g.58533334A>G | GRCh38 |
| NC_000016.9:g.58567238A>G , CM000678.1:g.58567238A>G | GRCh37 |
| NC_000016.8:g.57124739A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317147.10:c.5895+813T>C MANE Select | ENSP00000320949.5:n.5895+813T>C | |
| ENST00000317147.9:c.5895+813T>C | ENSP00000320949.5:n.5895+813T>C | |
| ENST00000567188.5:c.5880+813T>C | ENSP00000456649.1:n.5880+813T>C | |
| ENST00000568917.1:c.1035+813T>C | ENSP00000454611.1:n.1035+813T>C | |
| ENST00000569240.5:c.5880+813T>C | ENSP00000455635.1:n.5880+813T>C | |
| NM_001265612.1:c.5880+813T>C | NP_001252541.1:n.5880+813T>C | |
| NM_016284.4:c.5895+813T>C | NP_057368.3:n.5895+813T>C | |
| NR_049763.1:n.6213+813T>C | ||
| NM_016284.5:c.5895+813T>C MANE Select | NP_057368.3:n.5895+813T>C | |
| NM_001265612.2:c.5880+813T>C | NP_001252541.1:n.5880+813T>C | |
| NR_049763.2:n.6153+813T>C |