Linked Data
dbSNP Id:
rs13189798
gnomAD v2:
5-75487251-C-A
gnomAD v3:
5-76191426-C-A
gnomAD v4:
5-76191426-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76191426C>A , CM000667.2:g.76191426C>A | GRCh38 |
| NC_000005.9:g.75487251C>A , CM000667.1:g.75487251C>A | GRCh37 |
| NC_000005.8:g.75523007C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502798.7:c.581-3493C>A MANE Select | ENSP00000423541.2:n.581-3493C>A | |
| ENST00000322285.7:c.581-3493C>A | ENSP00000316983.7:n.581-3493C>A | |
| ENST00000502798.6:c.581-3493C>A | ENSP00000423541.2:n.581-3493C>A | |
| NM_001297716.1:c.581-3493C>A | NP_001284645.1:n.581-3493C>A | |
| NM_014979.3:c.581-3493C>A | NP_055794.3:n.581-3493C>A | |
| XM_011543281.1:c.581-3493C>A | XP_011541583.1:n.581-3493C>A | |
| XM_011543282.1:c.9-18310C>A | XP_011541584.1:n.9-18310C>A | |
| XM_011543281.3:c.581-3493C>A | XP_011541583.1:n.581-3493C>A | |
| XM_011543282.3:c.581-3493C>A | XP_011541584.2:n.581-3493C>A | |
| NM_014979.4:c.581-3493C>A MANE Select | NP_055794.3:n.581-3493C>A | |
| NM_001297716.2:c.581-3493C>A | NP_001284645.1:n.581-3493C>A |