Linked Data
ClinVar Variation Id:
311198
ClinVar RCV Id:
RCV000326433
dbSNP Id:
rs747313370
gnomAD v4:
13-110512163-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110512163G>T , CM000675.2:g.110512163G>T | GRCh38 |
| NC_000013.10:g.111164510G>T , CM000675.1:g.111164510G>T | GRCh37 |
| NC_000013.9:g.109962511G>T | NCBI36 |
| NG_032137.1:g.209880G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.5111G>T MANE Select | ENSP00000353654.5:p.Arg1704Leu | |
| ENST00000648222.1:n.799G>T | ||
| ENST00000650225.1:n.2766G>T | ||
| ENST00000360467.5:c.5111G>T | ENSP00000353654.5:p.Arg1704Leu | |
| NM_001846.2:c.5111G>T | NP_001837.2:p.Arg1704Leu | |
| NM_001846.3:c.5111G>T | NP_001837.2:p.Arg1704Leu | |
| NM_001846.4:c.5111G>T MANE Select | NP_001837.2:p.Arg1704Leu |