Linked Data
ClinVar Variation Id:
1217372
dbSNP Id:
rs37060
ExAC:
16:58566304 G / A
gnomAD v2:
16-58566304-G-A
gnomAD v3:
16-58532400-G-A
gnomAD v4:
16-58532400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58532400G>A , CM000678.2:g.58532400G>A | GRCh38 |
| NC_000016.9:g.58566304G>A , CM000678.1:g.58566304G>A | GRCh37 |
| NC_000016.8:g.57123805G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.5896-5C>T MANE Select | ENSP00000320949.5:n.5896-5C>T | |
| ENST00000317147.9:c.5896-5C>T | ENSP00000320949.5:n.5896-5C>T | |
| ENST00000563130.5:n.766C>T | ||
| ENST00000567188.5:c.5881-5C>T | ENSP00000456649.1:n.5881-5C>T | |
| ENST00000568917.1:c.1036-5C>T | ENSP00000454611.1:n.1036-5C>T | |
| ENST00000569240.5:c.5881-5C>T | ENSP00000455635.1:n.5881-5C>T | |
| NM_001265612.1:c.5881-5C>T | NP_001252541.1:n.5881-5C>T | |
| NM_016284.4:c.5896-5C>T | NP_057368.3:n.5896-5C>T | |
| NR_049763.1:n.6214-5C>T | ||
| NM_016284.5:c.5896-5C>T MANE Select | NP_057368.3:n.5896-5C>T | |
| NM_001265612.2:c.5881-5C>T | NP_001252541.1:n.5881-5C>T | |
| NR_049763.2:n.6154-5C>T |