Linked Data
ClinVar Variation Id:
100548
ClinVar RCV Id:
RCV000128520
dbSNP Id:
rs199469646
ExAC:
5:136961454 G / A
gnomAD v2:
5-136961454-G-A
gnomAD v3:
5-137625765-G-A
gnomAD v4:
5-137625765-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137625765G>A , CM000667.2:g.137625765G>A | GRCh38 |
| NC_000005.9:g.136961454G>A , CM000667.1:g.136961454G>A | GRCh37 |
| NC_000005.8:g.136989353G>A | NCBI36 |
| NG_032569.1:g.115326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1723C>T MANE Select | ENSP00000312397.4:p.Arg575Trp | |
| ENST00000309755.8:c.1723C>T | ENSP00000312397.4:p.Arg575Trp | |
| ENST00000447439.6:n.1779C>T | ||
| ENST00000504208.5:c.*607C>T | ENSP00000423585.1:n.*607C>T | |
| ENST00000506491.5:c.1477C>T | ENSP00000424828.1:p.Arg493Trp | |
| ENST00000506873.5:n.1246C>T | ||
| ENST00000508657.5:c.1627C>T | ENSP00000422099.1:p.Arg543Trp | |
| ENST00000509694.1:n.622+2294C>T | ||
| NM_001257194.1:c.1627C>T | NP_001244123.1:p.Arg543Trp | |
| NM_001257195.1:c.1477C>T | NP_001244124.1:p.Arg493Trp | |
| NM_017415.2:c.1723C>T | NP_059111.2:p.Arg575Trp | |
| NM_017415.3:c.1723C>T MANE Select | NP_059111.2:p.Arg575Trp | |
| NM_001257195.2:c.1477C>T | NP_001244124.1:p.Arg493Trp |