Linked Data
ClinVar Variation Id:
351006
dbSNP Id:
rs753960777
ExAC:
5:13714567 G / A
gnomAD v2:
5-13714567-G-A
gnomAD v3:
5-13714458-G-A
gnomAD v4:
5-13714458-G-A
COSMIC:
COSM3138890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13714458G>A , CM000667.2:g.13714458G>A | GRCh38 |
| NC_000005.9:g.13714567G>A , CM000667.1:g.13714567G>A | GRCh37 |
| NC_000005.8:g.13767567G>A | NCBI36 |
| NG_013081.1:g.235023C>T | |
| NG_013081.2:g.235023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.405C>T | ||
| ENST00000265104.5:c.13072C>T MANE Select | ENSP00000265104.4:p.Arg4358Trp | |
| ENST00000681290.1:c.13027C>T | ENSP00000505288.1:p.Arg4343Trp | |
| ENST00000265104.4:c.13072C>T | ENSP00000265104.4:p.Arg4358Trp | |
| NM_001369.2:c.13072C>T | NP_001360.1:p.Arg4358Trp | |
| XM_005248262.2:c.13027C>T | XP_005248319.1:p.Arg4343Trp | |
| XM_005248262.3:c.13180C>T | XP_005248319.2:p.Arg4394Trp | |
| XM_017009177.1:c.12813+2857C>T | XP_016864666.1:n.12813+2857C>T | |
| XM_017009178.1:c.12085C>T | XP_016864667.1:p.Arg4029Trp | |
| XM_017009179.2:c.12085C>T | XP_016864668.1:p.Arg4029Trp | |
| XM_017009185.1:c.8269C>T | XP_016864674.1:p.Arg2757Trp | |
| XM_017009186.1:c.7822C>T | XP_016864675.1:p.Arg2608Trp | |
| XM_017009188.1:c.7159C>T | XP_016864677.1:p.Arg2387Trp | |
| XM_024454388.1:c.12085C>T | XP_024310156.1:p.Arg4029Trp | |
| XM_024454389.1:c.11674C>T | XP_024310157.1:p.Arg3892Trp | |
| NM_001369.3:c.13072C>T MANE Select | NP_001360.1:p.Arg4358Trp |