Linked Data
ClinVar Variation Id:
319082
ClinVar RCV Id:
RCV000362518
dbSNP Id:
rs760556743
gnomAD v4:
16-31490449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31490449G>A , CM000678.2:g.31490449G>A | GRCh38 |
| NC_000016.9:g.31501770G>A , CM000678.1:g.31501770G>A | GRCh37 |
| NC_000016.8:g.31409271G>A | NCBI36 |
| NG_012892.1:g.12332G>A | |
| NG_033149.1:g.22971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327237.7:c.*386C>T (RUSF1) MANE Select | ENSP00000317579.2:n.*386C>T | |
| ENST00000330498.4:c.1933G>A (SLC5A2) MANE Select | ENSP00000327943.3:p.Glu645Lys | |
| ENST00000327237.6:c.*386C>T (RUSF1) | ENSP00000317579.2:n.*386C>T | |
| ENST00000330498.3:c.1933G>A (SLC5A2) | ENSP00000327943.3:p.Glu645Lys | |
| ENST00000419665.6:c.*236G>A (SLC5A2) | ENSP00000410601.2:n.*236G>A | |
| ENST00000430477.6:c.*386C>T (RUSF1) | ENSP00000398074.3:n.*386C>T | |
| ENST00000564197.1:n.217-130G>A (SLC5A2) | ||
| ENST00000567051.1:n.187-249G>A (SLC5A2) | ||
| ENST00000567994.5:c.*386C>T (RUSF1) | ENSP00000456050.1:n.*386C>T | |
| ENST00000568188.1:n.2147G>A (SLC5A2) | ||
| ENST00000568491.1:n.1467C>T (RUSF1) | ||
| ENST00000570164.5:c.*386C>T (RUSF1) | ENSP00000456775.1:n.*386C>T | |
| NM_003041.3:c.1933G>A (SLC5A2) | NP_003032.1:p.Glu645Lys | |
| NM_022744.3:c.*386C>T (RUSF1) | NP_073581.2:n.*386C>T | |
| NR_130783.1:n.1632G>A (SLC5A2) | ||
| XM_006721072.2:c.2032G>A (SLC5A2) | XP_006721135.2:p.Glu678Lys | |
| XR_950831.1:n.1751C>T (RUSF1) | ||
| XM_006721072.4:c.2032G>A (SLC5A2) | XP_006721135.2:p.Glu678Lys | |
| XM_017023570.1:c.*386C>T (RUSF1) | XP_016879059.1:n.*386C>T | |
| XM_024450402.1:c.*314G>A (SLC5A2) | XP_024306170.1:n.*314G>A | |
| XR_950831.3:n.1751C>T (RUSF1) | ||
| NM_003041.4:c.1933G>A (SLC5A2) MANE Select | NP_003032.1:p.Glu645Lys | |
| NM_022744.4:c.*386C>T (RUSF1) MANE Select | NP_073581.2:n.*386C>T | |
| NR_130783.2:n.1627G>A (SLC5A2) |