Linked Data
dbSNP Id:
rs7657958
gnomAD v2:
4-69682795-G-A
gnomAD v3:
4-68817077-G-A
gnomAD v4:
4-68817077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68817077G>A , CM000666.2:g.68817077G>A | GRCh38 |
| NC_000004.11:g.69682795G>A , CM000666.1:g.69682795G>A | GRCh37 |
| NC_000004.10:g.69717384G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265403.12:c.718+340G>A MANE Select | ENSP00000265403.7:n.718+340G>A | |
| ENST00000265403.11:c.718+340G>A | ENSP00000265403.7:n.718+340G>A | |
| ENST00000458688.2:c.466+592G>A | ENSP00000413420.2:n.466+592G>A | |
| NM_001075.5:c.718+340G>A | NP_001066.1:n.718+340G>A | |
| NM_001144767.2:c.466+592G>A | NP_001138239.1:n.466+592G>A | |
| NM_001290091.1:c.-27+905G>A | NP_001277020.1:n.-27+905G>A | |
| XM_017008585.2:c.718+340G>A | XP_016864074.1:n.718+340G>A | |
| NM_001075.6:c.718+340G>A MANE Select | NP_001066.1:n.718+340G>A | |
| NM_001144767.3:c.466+592G>A | NP_001138239.1:n.466+592G>A | |
| NM_001290091.2:c.-27+905G>A | NP_001277020.1:n.-27+905G>A |