Linked Data
dbSNP Id:
rs1237531003
gnomAD v2:
20-4215585-G-A
gnomAD v3:
20-4234938-G-A
gnomAD v4:
20-4234938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4234938G>A , CM000682.2:g.4234938G>A | GRCh38 |
| NC_000020.10:g.4215585G>A , CM000682.1:g.4215585G>A | GRCh37 |
| NC_000020.9:g.4163585G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379453.6:c.1112-12808C>T MANE Select | ENSP00000368766.4:n.1112-12808C>T | |
| ENST00000379453.5:c.1112-12808C>T | ENSP00000368766.4:n.1112-12808C>T | |
| NM_000678.3:c.1112-12808C>T | NP_000669.1:n.1112-12808C>T | |
| NM_000678.4:c.1112-12808C>T MANE Select | NP_000669.1:n.1112-12808C>T |