Linked Data
ClinVar Variation Id:
130157
ClinVar RCV Id:
RCV000118186
dbSNP Id:
rs587780440
gnomAD v2:
6-117203566-C-T
gnomAD v4:
6-116882403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116882403C>T , CM000668.2:g.116882403C>T | GRCh38 |
| NC_000006.11:g.117203566C>T , CM000668.1:g.117203566C>T | GRCh37 |
| NC_000006.10:g.117310259C>T | NCBI36 |
| NG_027699.1:g.10191C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332958.3:c.541C>T MANE Select | ENSP00000332208.2:p.Arg181Trp | |
| ENST00000332958.2:c.541C>T | ENSP00000332208.2:p.Arg181Trp | |
| ENST00000487683.5:n.605C>T | ||
| NM_173560.3:c.541C>T | NP_775831.2:p.Arg181Trp | |
| XM_011535589.1:c.541C>T | XP_011533891.1:p.Arg181Trp | |
| XM_017010477.1:c.163C>T | XP_016865966.1:p.Arg55Trp | |
| NM_173560.4:c.541C>T MANE Select | NP_775831.2:p.Arg181Trp |