Linked Data
dbSNP Id:
rs772207718
ExAC:
10:112361909 T / C
gnomAD v2:
10-112361909-T-C
gnomAD v4:
10-110602151-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602151T>C , CM000672.2:g.110602151T>C | GRCh38 |
| NC_000010.10:g.112361909T>C , CM000672.1:g.112361909T>C | GRCh37 |
| NC_000010.9:g.112351899T>C | NCBI36 |
| NG_012217.1:g.39461T>C , LRG_774:g.39461T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5311T>C | ||
| ENST00000685743.1:n.2786T>C | ||
| ENST00000686057.1:n.1429T>C | ||
| ENST00000689321.1:n.2041T>C | ||
| ENST00000689986.1:n.867T>C | ||
| ENST00000361804.5:c.3078T>C MANE Select | ENSP00000354720.5:p.Tyr1026= | |
| ENST00000361804.4:c.3078T>C | ENSP00000354720.4:p.Tyr1026= | |
| NM_005445.3:c.3078T>C , LRG_774t1:c.3078T>C | NP_005436.1:p.Tyr1026= | |
| NM_005445.4:c.3078T>C MANE Select | NP_005436.1:p.Tyr1026= |