Linked Data
ClinVar Variation Id:
407219
ClinVar RCV Id:
RCV000464708
dbSNP Id:
rs565819640
ExAC:
5:13735964 G / A
gnomAD v2:
5-13735964-G-A
gnomAD v3:
5-13735855-G-A
gnomAD v4:
5-13735855-G-A
COSMIC:
COSM3236866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735855G>A , CM000667.2:g.13735855G>A | GRCh38 |
| NC_000005.9:g.13735964G>A , CM000667.1:g.13735964G>A | GRCh37 |
| NC_000005.8:g.13788964G>A | NCBI36 |
| NG_013081.1:g.213626C>T | |
| NG_013081.2:g.213626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11533C>T MANE Select | ENSP00000265104.4:p.Arg3845Cys | |
| ENST00000681290.1:c.11488C>T | ENSP00000505288.1:p.Arg3830Cys | |
| ENST00000265104.4:c.11533C>T | ENSP00000265104.4:p.Arg3845Cys | |
| NM_001369.2:c.11533C>T | NP_001360.1:p.Arg3845Cys | |
| XM_005248262.2:c.11488C>T | XP_005248319.1:p.Arg3830Cys | |
| XM_005248262.3:c.11641C>T | XP_005248319.2:p.Arg3881Cys | |
| XM_017009177.1:c.11641C>T | XP_016864666.1:p.Arg3881Cys | |
| XM_017009178.1:c.10546C>T | XP_016864667.1:p.Arg3516Cys | |
| XM_017009179.2:c.10546C>T | XP_016864668.1:p.Arg3516Cys | |
| XM_017009180.1:c.11641C>T | XP_016864669.1:p.Arg3881Cys | |
| XM_017009181.1:c.11641C>T | XP_016864670.1:p.Arg3881Cys | |
| XM_017009182.1:c.11397C>T | XP_016864671.1:p.Phe3799= | |
| XM_017009185.1:c.6730C>T | XP_016864674.1:p.Arg2244Cys | |
| XM_017009186.1:c.6283C>T | XP_016864675.1:p.Arg2095Cys | |
| XM_017009188.1:c.5620C>T | XP_016864677.1:p.Arg1874Cys | |
| XM_024454388.1:c.10546C>T | XP_024310156.1:p.Arg3516Cys | |
| XM_024454389.1:c.10135C>T | XP_024310157.1:p.Arg3379Cys | |
| NM_001369.3:c.11533C>T MANE Select | NP_001360.1:p.Arg3845Cys |