Linked Data
dbSNP Id:
rs6057651
gnomAD v2:
20-31410337-G-A
gnomAD v3:
20-32822531-G-A
gnomAD v4:
20-32822531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32822531G>A , CM000682.2:g.32822531G>A | GRCh38 |
| NC_000020.10:g.31410337G>A , CM000682.1:g.31410337G>A | GRCh37 |
| NC_000020.9:g.30873998G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375571.6:c.-4+2503G>A MANE Select | ENSP00000364721.5:n.-4+2503G>A | |
| ENST00000375571.5:c.-4+2503G>A | ENSP00000364721.5:n.-4+2503G>A | |
| NM_012325.2:c.-4+2503G>A | NP_036457.1:n.-4+2503G>A | |
| XM_011528696.1:c.-4+2614G>A | XP_011526998.1:n.-4+2614G>A | |
| XM_011528696.2:c.-4+2614G>A | XP_011526998.1:n.-4+2614G>A | |
| NM_012325.3:c.-4+2503G>A MANE Select | NP_036457.1:n.-4+2503G>A |