Linked Data
ClinVar Variation Id:
351051
dbSNP Id:
rs369744828
ExAC:
5:13786383 G / A
gnomAD v2:
5-13786383-G-A
gnomAD v3:
5-13786274-G-A
gnomAD v4:
5-13786274-G-A
COSMIC:
COSM1433445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13786274G>A , CM000667.2:g.13786274G>A | GRCh38 |
| NC_000005.9:g.13786383G>A , CM000667.1:g.13786383G>A | GRCh37 |
| NC_000005.8:g.13839383G>A | NCBI36 |
| NG_013081.1:g.163207C>T | |
| NG_013081.2:g.163207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8725C>T MANE Select | ENSP00000265104.4:p.Arg2909Cys | |
| ENST00000681290.1:c.8680C>T | ENSP00000505288.1:p.Arg2894Cys | |
| ENST00000265104.4:c.8725C>T | ENSP00000265104.4:p.Arg2909Cys | |
| NM_001369.2:c.8725C>T | NP_001360.1:p.Arg2909Cys | |
| XM_005248262.2:c.8680C>T | XP_005248319.1:p.Arg2894Cys | |
| XM_011513990.1:c.8725C>T | XP_011512292.1:p.Arg2909Cys | |
| XR_925598.1:n.8932C>T | ||
| XM_005248262.3:c.8833C>T | XP_005248319.2:p.Arg2945Cys | |
| XM_017009177.1:c.8833C>T | XP_016864666.1:p.Arg2945Cys | |
| XM_017009178.1:c.7738C>T | XP_016864667.1:p.Arg2580Cys | |
| XM_017009179.2:c.7738C>T | XP_016864668.1:p.Arg2580Cys | |
| XM_017009180.1:c.8833C>T | XP_016864669.1:p.Arg2945Cys | |
| XM_017009181.1:c.8833C>T | XP_016864670.1:p.Arg2945Cys | |
| XM_017009182.1:c.8833C>T | XP_016864671.1:p.Arg2945Cys | |
| XM_017009183.1:c.8833C>T | XP_016864672.1:p.Arg2945Cys | |
| XM_017009184.1:c.8833C>T | XP_016864673.1:p.Arg2945Cys | |
| XM_017009185.1:c.3922C>T | XP_016864674.1:p.Arg1308Cys | |
| XM_017009186.1:c.3475C>T | XP_016864675.1:p.Arg1159Cys | |
| XM_017009188.1:c.2812C>T | XP_016864677.1:p.Arg938Cys | |
| XM_024454388.1:c.7738C>T | XP_024310156.1:p.Arg2580Cys | |
| XM_024454389.1:c.7327C>T | XP_024310157.1:p.Arg2443Cys | |
| XR_001742034.1:n.8850C>T | ||
| XR_001742035.1:n.8850C>T | ||
| NM_001369.3:c.8725C>T MANE Select | NP_001360.1:p.Arg2909Cys |