Linked Data
dbSNP Id:
rs990799380
gnomAD v2:
10-112361677-C-T
gnomAD v3:
10-110601919-C-T
gnomAD v4:
10-110601919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601919C>T , CM000672.2:g.110601919C>T | GRCh38 |
| NC_000010.10:g.112361677C>T , CM000672.1:g.112361677C>T | GRCh37 |
| NC_000010.9:g.112351667C>T | NCBI36 |
| NG_012217.1:g.39229C>T , LRG_774:g.39229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5125+35C>T | ||
| ENST00000685743.1:n.2600+35C>T | ||
| ENST00000686057.1:n.1243+35C>T | ||
| ENST00000689321.1:n.1855+35C>T | ||
| ENST00000689986.1:n.681+35C>T | ||
| ENST00000361804.5:c.2892+35C>T MANE Select | ENSP00000354720.5:n.2892+35C>T | |
| ENST00000361804.4:c.2892+35C>T | ENSP00000354720.4:n.2892+35C>T | |
| NM_005445.3:c.2892+35C>T , LRG_774t1:c.2892+35C>T | NP_005436.1:n.2892+35C>T | |
| NM_005445.4:c.2892+35C>T MANE Select | NP_005436.1:n.2892+35C>T |