Linked Data
ClinVar Variation Id:
238964
dbSNP Id:
rs367709427
ExAC:
5:13692193 C / T
gnomAD v2:
5-13692193-C-T
gnomAD v3:
5-13692084-C-T
gnomAD v4:
5-13692084-C-T
COSMIC:
COSM1176716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13692084C>T , CM000667.2:g.13692084C>T | GRCh38 |
| NC_000005.9:g.13692193C>T , CM000667.1:g.13692193C>T | GRCh37 |
| NC_000005.8:g.13745193C>T | NCBI36 |
| NG_013081.1:g.257397G>A | |
| NG_013081.2:g.257397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.1108G>A | ||
| ENST00000265104.5:c.13775G>A MANE Select | ENSP00000265104.4:p.Arg4592Gln | |
| ENST00000681290.1:c.13730G>A | ENSP00000505288.1:p.Arg4577Gln | |
| ENST00000265104.4:c.13775G>A | ENSP00000265104.4:p.Arg4592Gln | |
| NM_001369.2:c.13775G>A | NP_001360.1:p.Arg4592Gln | |
| XM_005248262.2:c.13730G>A | XP_005248319.1:p.Arg4577Gln | |
| XM_005248262.3:c.13883G>A | XP_005248319.2:p.Arg4628Gln | |
| XM_017009177.1:c.13463G>A | XP_016864666.1:p.Arg4488Gln | |
| XM_017009178.1:c.12788G>A | XP_016864667.1:p.Arg4263Gln | |
| XM_017009179.2:c.12788G>A | XP_016864668.1:p.Arg4263Gln | |
| XM_017009185.1:c.8972G>A | XP_016864674.1:p.Arg2991Gln | |
| XM_017009186.1:c.8525G>A | XP_016864675.1:p.Arg2842Gln | |
| XM_017009188.1:c.7862G>A | XP_016864677.1:p.Arg2621Gln | |
| XM_024454388.1:c.12788G>A | XP_024310156.1:p.Arg4263Gln | |
| XM_024454389.1:c.12377G>A | XP_024310157.1:p.Arg4126Gln | |
| NM_001369.3:c.13775G>A MANE Select | NP_001360.1:p.Arg4592Gln |