Linked Data
dbSNP Id:
rs771005630
ExAC:
3:8787569 C / A
gnomAD v2:
3-8787569-C-A
gnomAD v3:
3-8745883-C-A
gnomAD v4:
3-8745883-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745883C>A , CM000665.2:g.8745883C>A | GRCh38 |
| NC_000003.11:g.8787569C>A , CM000665.1:g.8787569C>A | GRCh37 |
| NC_000003.10:g.8762569C>A | NCBI36 |
| NG_008797.2:g.17074C>A , LRG_329:g.17074C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.*16C>A MANE Select | ENSP00000341940.2:n.*16C>A | |
| ENST00000343849.2:c.*16C>A | ENSP00000341940.2:n.*16C>A | |
| ENST00000397368.2:c.*6+10C>A | ENSP00000380525.2:n.*6+10C>A | |
| ENST00000472766.1:n.155+11893C>A | ||
| NM_001234.4:c.*6+10C>A | NP_001225.1:n.*6+10C>A | |
| NM_033337.2:c.*16C>A , LRG_329t1:c.*16C>A | NP_203123.1:n.*16C>A | |
| NM_001234.5:c.*6+10C>A | NP_001225.1:n.*6+10C>A | |
| NM_033337.3:c.*16C>A MANE Select | NP_203123.1:n.*16C>A |