Linked Data
ClinVar Variation Id:
578839
ClinVar RCV Id:
RCV000701966
dbSNP Id:
rs753913853
ExAC:
5:13770874 G / A
gnomAD v2:
5-13770874-G-A
gnomAD v3:
5-13770765-G-A
gnomAD v4:
5-13770765-G-A
COSMIC:
COSM70489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770765G>A , CM000667.2:g.13770765G>A | GRCh38 |
| NC_000005.9:g.13770874G>A , CM000667.1:g.13770874G>A | GRCh37 |
| NC_000005.8:g.13823874G>A | NCBI36 |
| NG_013081.1:g.178716C>T | |
| NG_013081.2:g.178716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9589C>T MANE Select | ENSP00000265104.4:p.Arg3197Trp | |
| ENST00000681290.1:c.9544C>T | ENSP00000505288.1:p.Arg3182Trp | |
| ENST00000265104.4:c.9589C>T | ENSP00000265104.4:p.Arg3197Trp | |
| ENST00000504001.3:n.301C>T | ||
| NM_001369.2:c.9589C>T | NP_001360.1:p.Arg3197Trp | |
| XM_005248262.2:c.9544C>T | XP_005248319.1:p.Arg3182Trp | |
| XM_005248262.3:c.9697C>T | XP_005248319.2:p.Arg3233Trp | |
| XM_017009177.1:c.9697C>T | XP_016864666.1:p.Arg3233Trp | |
| XM_017009178.1:c.8602C>T | XP_016864667.1:p.Arg2868Trp | |
| XM_017009179.2:c.8602C>T | XP_016864668.1:p.Arg2868Trp | |
| XM_017009180.1:c.9697C>T | XP_016864669.1:p.Arg3233Trp | |
| XM_017009181.1:c.9697C>T | XP_016864670.1:p.Arg3233Trp | |
| XM_017009182.1:c.9697C>T | XP_016864671.1:p.Arg3233Trp | |
| XM_017009183.1:c.9697C>T | XP_016864672.1:p.Arg3233Trp | |
| XM_017009185.1:c.4786C>T | XP_016864674.1:p.Arg1596Trp | |
| XM_017009186.1:c.4339C>T | XP_016864675.1:p.Arg1447Trp | |
| XM_017009188.1:c.3676C>T | XP_016864677.1:p.Arg1226Trp | |
| XM_024454388.1:c.8602C>T | XP_024310156.1:p.Arg2868Trp | |
| XM_024454389.1:c.8191C>T | XP_024310157.1:p.Arg2731Trp | |
| NM_001369.3:c.9589C>T MANE Select | NP_001360.1:p.Arg3197Trp |