Linked Data
dbSNP Id:
rs2419565
ExAC:
10:112361870 A / T
gnomAD v2:
10-112361870-A-T
gnomAD v4:
10-110602112-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602112A>T , CM000672.2:g.110602112A>T | GRCh38 |
| NC_000010.10:g.112361870A>T , CM000672.1:g.112361870A>T | GRCh37 |
| NC_000010.9:g.112351860A>T | NCBI36 |
| NG_012217.1:g.39422A>T , LRG_774:g.39422A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5272A>T | ||
| ENST00000685743.1:n.2747A>T | ||
| ENST00000686057.1:n.1390A>T | ||
| ENST00000689321.1:n.2002A>T | ||
| ENST00000689986.1:n.828A>T | ||
| ENST00000361804.5:c.3039A>T MANE Select | ENSP00000354720.5:p.Ser1013= | |
| ENST00000361804.4:c.3039A>T | ENSP00000354720.4:p.Ser1013= | |
| NM_005445.3:c.3039A>T , LRG_774t1:c.3039A>T | NP_005436.1:p.Ser1013= | |
| NM_005445.4:c.3039A>T MANE Select | NP_005436.1:p.Ser1013= |