Linked Data
ClinVar Variation Id:
572410
dbSNP Id:
rs1003521922
gnomAD v2:
19-4090688-G-A
gnomAD v4:
19-4090690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090690G>A , CM000681.2:g.4090690G>A | GRCh38 |
| NC_000019.9:g.4090688G>A , CM000681.1:g.4090688G>A | GRCh37 |
| NC_000019.8:g.4041688G>A | NCBI36 |
| NG_007996.1:g.38439C>T , LRG_750:g.38439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1550C>T | ||
| ENST00000688002.1:n.3262C>T | ||
| ENST00000688751.1:n.247C>T | ||
| ENST00000689792.1:n.1015C>T | ||
| ENST00000262948.10:c.1111C>T MANE Select | ENSP00000262948.4:p.Arg371Trp | |
| ENST00000262948.9:c.1111C>T | ENSP00000262948.3:p.Arg371Trp | |
| ENST00000394867.8:c.820C>T | ENSP00000378336.1:p.Arg274Trp | |
| ENST00000597263.5:n.296C>T | ||
| ENST00000599021.1:c.221C>T | ||
| ENST00000600584.5:n.2560C>T | ||
| ENST00000601786.5:n.1412C>T | ||
| NM_030662.3:c.1111C>T , LRG_750t1:c.1111C>T | NP_109587.1:p.Arg371Trp | |
| XM_006722799.2:c.832C>T | XP_006722862.1:p.Arg278Trp | |
| XM_011528133.1:c.541C>T | XP_011526435.1:p.Arg181Trp | |
| NM_030662.4:c.1111C>T MANE Select | NP_109587.1:p.Arg371Trp |