Linked Data
dbSNP Id:
rs1448240862
gnomAD v2:
5-53247560-T-A
gnomAD v3:
5-53951730-T-A
gnomAD v4:
5-53951730-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53951730T>A , CM000667.2:g.53951730T>A | GRCh38 |
| NC_000005.9:g.53247560T>A , CM000667.1:g.53247560T>A | GRCh37 |
| NC_000005.8:g.53283317T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504924.6:c.463-65017A>T MANE Select | ENSP00000433427.1:n.463-65017A>T | |
| ENST00000502271.5:c.-75-65017A>T | ENSP00000473508.1:n.-75-65017A>T | |
| ENST00000504924.5:c.463-65017A>T | ENSP00000433427.1:n.463-65017A>T | |
| ENST00000507646.2:c.463-64347A>T | ENSP00000432680.1:n.463-64347A>T | |
| ENST00000510591.6:n.536-65017A>T | ||
| ENST00000620747.4:c.469-65023A>T | ENSP00000478984.1:n.469-65023A>T | |
| NM_019087.2:c.463-65017A>T | NP_061960.1:n.463-65017A>T | |
| XM_011543498.1:c.646-65017A>T | XP_011541800.1:n.646-65017A>T | |
| XM_011543499.1:c.589-65017A>T | XP_011541801.1:n.589-65017A>T | |
| XM_011543500.1:c.520-65017A>T | XP_011541802.1:n.520-65017A>T | |
| XM_011543498.2:c.646-65017A>T | XP_011541800.1:n.646-65017A>T | |
| XM_011543499.2:c.589-65017A>T | XP_011541801.1:n.589-65017A>T | |
| XM_011543500.2:c.520-65017A>T | XP_011541802.1:n.520-65017A>T | |
| XM_017009598.1:c.469-65017A>T | XP_016865087.1:n.469-65017A>T | |
| NM_019087.3:c.463-65017A>T MANE Select | NP_061960.1:n.463-65017A>T |