Linked Data
ClinVar Variation Id:
2778156
ClinVar RCV Id:
RCV003655450
dbSNP Id:
rs762146075
ExAC:
19:4117563 G / A
gnomAD v2:
19-4117563-G-A
gnomAD v4:
19-4117565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117565G>A , CM000681.2:g.4117565G>A | GRCh38 |
| NC_000019.9:g.4117563G>A , CM000681.1:g.4117563G>A | GRCh37 |
| NC_000019.8:g.4068563G>A | NCBI36 |
| NG_007996.1:g.11564C>T , LRG_750:g.11564C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.596C>T | ||
| ENST00000687128.1:n.596C>T | ||
| ENST00000262948.10:c.157C>T MANE Select | ENSP00000262948.4:p.Arg53Trp | |
| ENST00000262948.9:c.157C>T | ENSP00000262948.3:p.Arg53Trp | |
| ENST00000394867.8:c.-135C>T | ENSP00000378336.1:n.-135C>T | |
| ENST00000599345.1:n.354C>T | ||
| NM_030662.3:c.157C>T , LRG_750t1:c.157C>T | NP_109587.1:p.Arg53Trp | |
| XM_006722799.2:c.157C>T | XP_006722862.1:p.Arg53Trp | |
| XM_017026989.1:c.157C>T | XP_016882478.1:p.Arg53Trp | |
| XM_017026990.1:c.157C>T | XP_016882479.1:p.Arg53Trp | |
| XM_017026991.1:c.157C>T | XP_016882480.1:p.Arg53Trp | |
| NM_030662.4:c.157C>T MANE Select | NP_109587.1:p.Arg53Trp |