Linked Data
ClinVar Variation Id:
1219903
ClinVar RCV Id:
RCV001590578
dbSNP Id:
rs61861700
ExAC:
10:112361665 T / C
gnomAD v2:
10-112361665-T-C
gnomAD v3:
10-110601907-T-C
gnomAD v4:
10-110601907-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601907T>C , CM000672.2:g.110601907T>C | GRCh38 |
| NC_000010.10:g.112361665T>C , CM000672.1:g.112361665T>C | GRCh37 |
| NC_000010.9:g.112351655T>C | NCBI36 |
| NG_012217.1:g.39217T>C , LRG_774:g.39217T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5125+23T>C | ||
| ENST00000685743.1:n.2600+23T>C | ||
| ENST00000686057.1:n.1243+23T>C | ||
| ENST00000689321.1:n.1855+23T>C | ||
| ENST00000689986.1:n.681+23T>C | ||
| ENST00000361804.5:c.2892+23T>C MANE Select | ENSP00000354720.5:n.2892+23T>C | |
| ENST00000361804.4:c.2892+23T>C | ENSP00000354720.4:n.2892+23T>C | |
| NM_005445.3:c.2892+23T>C , LRG_774t1:c.2892+23T>C | NP_005436.1:n.2892+23T>C | |
| NM_005445.4:c.2892+23T>C MANE Select | NP_005436.1:n.2892+23T>C |