Linked Data
ClinVar Variation Id:
2157643
ClinVar RCV Id:
RCV003079633
dbSNP Id:
rs754086061
gnomAD v4:
10-110601620-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601620G>T , CM000672.2:g.110601620G>T | GRCh38 |
| NC_000010.10:g.112361378G>T , CM000672.1:g.112361378G>T | GRCh37 |
| NC_000010.9:g.112351368G>T | NCBI36 |
| NG_012217.1:g.38930G>T , LRG_774:g.38930G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4878-17G>T | ||
| ENST00000685743.1:n.2336G>T | ||
| ENST00000686057.1:n.996-17G>T | ||
| ENST00000689321.1:n.1608-17G>T | ||
| ENST00000689986.1:n.434-17G>T | ||
| ENST00000361804.5:c.2645-17G>T MANE Select | ENSP00000354720.5:n.2645-17G>T | |
| ENST00000361804.4:c.2645-17G>T | ENSP00000354720.4:n.2645-17G>T | |
| NM_005445.3:c.2645-17G>T , LRG_774t1:c.2645-17G>T | NP_005436.1:n.2645-17G>T | |
| NM_005445.4:c.2645-17G>T MANE Select | NP_005436.1:n.2645-17G>T |