Linked Data
ClinVar Variation Id:
2293393
ClinVar RCV Id:
RCV004142490
dbSNP Id:
rs11554940
ExAC:
19:49119177 G / A
gnomAD v2:
19-49119177-G-A
gnomAD v3:
19-48615920-G-A
gnomAD v4:
19-48615920-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48615920G>A , CM000681.2:g.48615920G>A | GRCh38 |
| NC_000019.9:g.49119177G>A , CM000681.1:g.49119177G>A | GRCh37 |
| NC_000019.8:g.53810989G>A | NCBI36 |
| NG_029867.1:g.1630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549920.6:c.448C>T MANE Select | ENSP00000447001.1:p.Arg150Trp | |
| ENST00000084795.9:c.452C>T | ||
| ENST00000546623.5:c.383C>T | ||
| ENST00000547892.1:n.3256C>T | ||
| ENST00000547897.5:c.298-473C>T | ENSP00000470988.1:n.298-473C>T | |
| ENST00000549273.5:c.448C>T | ENSP00000449610.1:p.Arg150Trp | |
| ENST00000549370.5:c.*185C>T | ENSP00000449067.1:n.*185C>T | |
| ENST00000549533.1:n.506C>T | ||
| ENST00000549920.5:c.448C>T | ENSP00000447001.1:p.Arg150Trp | |
| ENST00000550645.5:c.298-15C>T | ENSP00000448899.1:n.298-15C>T | |
| ENST00000550973.5:c.292C>T | ENSP00000447894.1:p.Arg98Trp | |
| ENST00000551749.5:n.1502C>T | ||
| ENST00000552347.5:n.1482C>T | ||
| ENST00000552588.5:c.361C>T | ENSP00000449204.1:p.Arg121Trp | |
| NM_000979.3:c.448C>T | NP_000970.1:p.Arg150Trp | |
| NM_001270490.1:c.361C>T | NP_001257419.1:p.Arg121Trp | |
| NR_073022.1:n.715C>T | ||
| NM_000979.4:c.448C>T MANE Select | NP_000970.1:p.Arg150Trp | |
| NM_001270490.2:c.361C>T | NP_001257419.1:p.Arg121Trp | |
| NR_073022.2:n.475C>T |