Linked Data
dbSNP Id:
rs753835548
ExAC:
4:46125797 G / T
gnomAD v2:
4-46125797-G-T
gnomAD v3:
4-46123780-G-T
gnomAD v4:
4-46123780-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123780G>T , CM000666.2:g.46123780G>T | GRCh38 |
| NC_000004.11:g.46125797G>T , CM000666.1:g.46125797G>T | GRCh37 |
| NC_000004.10:g.45820554G>T | NCBI36 |
| NG_046964.1:g.5286C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.104+30C>A MANE Select | ENSP00000295452.4:n.104+30C>A | |
| ENST00000295452.4:c.104+30C>A | ENSP00000295452.4:n.104+30C>A | |
| NM_173536.3:c.104+30C>A | NP_775807.2:n.104+30C>A | |
| NM_173536.4:c.104+30C>A MANE Select | NP_775807.2:n.104+30C>A |