Linked Data
ClinVar Variation Id:
525525
dbSNP Id:
rs144949095
ExAC:
5:13714566 C / T
gnomAD v2:
5-13714566-C-T
gnomAD v3:
5-13714457-C-T
gnomAD v4:
5-13714457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13714457C>T , CM000667.2:g.13714457C>T | GRCh38 |
| NC_000005.9:g.13714566C>T , CM000667.1:g.13714566C>T | GRCh37 |
| NC_000005.8:g.13767566C>T | NCBI36 |
| NG_013081.1:g.235024G>A | |
| NG_013081.2:g.235024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.406G>A | ||
| ENST00000265104.5:c.13073G>A MANE Select | ENSP00000265104.4:p.Arg4358Gln | |
| ENST00000681290.1:c.13028G>A | ENSP00000505288.1:p.Arg4343Gln | |
| ENST00000265104.4:c.13073G>A | ENSP00000265104.4:p.Arg4358Gln | |
| NM_001369.2:c.13073G>A | NP_001360.1:p.Arg4358Gln | |
| XM_005248262.2:c.13028G>A | XP_005248319.1:p.Arg4343Gln | |
| XM_005248262.3:c.13181G>A | XP_005248319.2:p.Arg4394Gln | |
| XM_017009177.1:c.12813+2858G>A | XP_016864666.1:n.12813+2858G>A | |
| XM_017009178.1:c.12086G>A | XP_016864667.1:p.Arg4029Gln | |
| XM_017009179.2:c.12086G>A | XP_016864668.1:p.Arg4029Gln | |
| XM_017009185.1:c.8270G>A | XP_016864674.1:p.Arg2757Gln | |
| XM_017009186.1:c.7823G>A | XP_016864675.1:p.Arg2608Gln | |
| XM_017009188.1:c.7160G>A | XP_016864677.1:p.Arg2387Gln | |
| XM_024454388.1:c.12086G>A | XP_024310156.1:p.Arg4029Gln | |
| XM_024454389.1:c.11675G>A | XP_024310157.1:p.Arg3892Gln | |
| NM_001369.3:c.13073G>A MANE Select | NP_001360.1:p.Arg4358Gln |