Linked Data
dbSNP Id:
rs1025888277
gnomAD v2:
4-69682657-C-T
gnomAD v3:
4-68816939-C-T
gnomAD v4:
4-68816939-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68816939C>T , CM000666.2:g.68816939C>T | GRCh38 |
| NC_000004.11:g.69682657C>T , CM000666.1:g.69682657C>T | GRCh37 |
| NC_000004.10:g.69717246C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265403.12:c.718+202C>T MANE Select | ENSP00000265403.7:n.718+202C>T | |
| ENST00000265403.11:c.718+202C>T | ENSP00000265403.7:n.718+202C>T | |
| ENST00000458688.2:c.466+454C>T | ENSP00000413420.2:n.466+454C>T | |
| NM_001075.5:c.718+202C>T | NP_001066.1:n.718+202C>T | |
| NM_001144767.2:c.466+454C>T | NP_001138239.1:n.466+454C>T | |
| NM_001290091.1:c.-27+767C>T | NP_001277020.1:n.-27+767C>T | |
| XM_017008585.2:c.718+202C>T | XP_016864074.1:n.718+202C>T | |
| NM_001075.6:c.718+202C>T MANE Select | NP_001066.1:n.718+202C>T | |
| NM_001144767.3:c.466+454C>T | NP_001138239.1:n.466+454C>T | |
| NM_001290091.2:c.-27+767C>T | NP_001277020.1:n.-27+767C>T |