Linked Data
dbSNP Id:
rs1374845397
gnomAD v2:
5-53300711-G-A
gnomAD v3:
5-54004881-G-A
gnomAD v4:
5-54004881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54004881G>A , CM000667.2:g.54004881G>A | GRCh38 |
| NC_000005.9:g.53300711G>A , CM000667.1:g.53300711G>A | GRCh37 |
| NC_000005.8:g.53336468G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504924.6:c.462+108321C>T MANE Select | ENSP00000433427.1:n.462+108321C>T | |
| ENST00000502271.5:c.-76+108321C>T | ENSP00000473508.1:n.-76+108321C>T | |
| ENST00000504924.5:c.462+108321C>T | ENSP00000433427.1:n.462+108321C>T | |
| ENST00000507646.2:c.462+108321C>T | ENSP00000432680.1:n.462+108321C>T | |
| ENST00000510591.6:n.535+108321C>T | ||
| ENST00000620747.4:c.468+62281C>T | ENSP00000478984.1:n.468+62281C>T | |
| NM_019087.2:c.462+108321C>T | NP_061960.1:n.462+108321C>T | |
| XM_011543498.1:c.645+108321C>T | XP_011541800.1:n.645+108321C>T | |
| XM_011543499.1:c.588+108321C>T | XP_011541801.1:n.588+108321C>T | |
| XM_011543500.1:c.519+108321C>T | XP_011541802.1:n.519+108321C>T | |
| XM_011543498.2:c.645+108321C>T | XP_011541800.1:n.645+108321C>T | |
| XM_011543499.2:c.588+108321C>T | XP_011541801.1:n.588+108321C>T | |
| XM_011543500.2:c.519+108321C>T | XP_011541802.1:n.519+108321C>T | |
| XM_017009598.1:c.468+108321C>T | XP_016865087.1:n.468+108321C>T | |
| NM_019087.3:c.462+108321C>T MANE Select | NP_061960.1:n.462+108321C>T |