Linked Data
ClinVar Variation Id:
454815
dbSNP Id:
rs573476401
ExAC:
5:13770873 C / T
gnomAD v2:
5-13770873-C-T
gnomAD v3:
5-13770764-C-T
gnomAD v4:
5-13770764-C-T
COSMIC:
COSM70488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770764C>T , CM000667.2:g.13770764C>T | GRCh38 |
| NC_000005.9:g.13770873C>T , CM000667.1:g.13770873C>T | GRCh37 |
| NC_000005.8:g.13823873C>T | NCBI36 |
| NG_013081.1:g.178717G>A | |
| NG_013081.2:g.178717G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.9590G>A MANE Select | ENSP00000265104.4:p.Arg3197Gln | |
| ENST00000681290.1:c.9545G>A | ENSP00000505288.1:p.Arg3182Gln | |
| ENST00000265104.4:c.9590G>A | ENSP00000265104.4:p.Arg3197Gln | |
| ENST00000504001.3:n.302G>A | ||
| NM_001369.2:c.9590G>A | NP_001360.1:p.Arg3197Gln | |
| XM_005248262.2:c.9545G>A | XP_005248319.1:p.Arg3182Gln | |
| XM_005248262.3:c.9698G>A | XP_005248319.2:p.Arg3233Gln | |
| XM_017009177.1:c.9698G>A | XP_016864666.1:p.Arg3233Gln | |
| XM_017009178.1:c.8603G>A | XP_016864667.1:p.Arg2868Gln | |
| XM_017009179.2:c.8603G>A | XP_016864668.1:p.Arg2868Gln | |
| XM_017009180.1:c.9698G>A | XP_016864669.1:p.Arg3233Gln | |
| XM_017009181.1:c.9698G>A | XP_016864670.1:p.Arg3233Gln | |
| XM_017009182.1:c.9698G>A | XP_016864671.1:p.Arg3233Gln | |
| XM_017009183.1:c.9698G>A | XP_016864672.1:p.Arg3233Gln | |
| XM_017009185.1:c.4787G>A | XP_016864674.1:p.Arg1596Gln | |
| XM_017009186.1:c.4340G>A | XP_016864675.1:p.Arg1447Gln | |
| XM_017009188.1:c.3677G>A | XP_016864677.1:p.Arg1226Gln | |
| XM_024454388.1:c.8603G>A | XP_024310156.1:p.Arg2868Gln | |
| XM_024454389.1:c.8192G>A | XP_024310157.1:p.Arg2731Gln | |
| NM_001369.3:c.9590G>A MANE Select | NP_001360.1:p.Arg3197Gln |