Linked Data
ClinVar Variation Id:
219652
dbSNP Id:
rs148696723
ExAC:
5:13719111 G / A
gnomAD v2:
5-13719111-G-A
gnomAD v3:
5-13719002-G-A
gnomAD v4:
5-13719002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13719002G>A , CM000667.2:g.13719002G>A | GRCh38 |
| NC_000005.9:g.13719111G>A , CM000667.1:g.13719111G>A | GRCh37 |
| NC_000005.8:g.13772111G>A | NCBI36 |
| NG_013081.1:g.230479C>T | |
| NG_013081.2:g.230479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12379C>T MANE Select | ENSP00000265104.4:p.Arg4127Cys | |
| ENST00000681290.1:c.12334C>T | ENSP00000505288.1:p.Arg4112Cys | |
| ENST00000265104.4:c.12379C>T | ENSP00000265104.4:p.Arg4127Cys | |
| NM_001369.2:c.12379C>T | NP_001360.1:p.Arg4127Cys | |
| XM_005248262.2:c.12334C>T | XP_005248319.1:p.Arg4112Cys | |
| XM_005248262.3:c.12487C>T | XP_005248319.2:p.Arg4163Cys | |
| XM_017009177.1:c.12487C>T | XP_016864666.1:p.Arg4163Cys | |
| XM_017009178.1:c.11392C>T | XP_016864667.1:p.Arg3798Cys | |
| XM_017009179.2:c.11392C>T | XP_016864668.1:p.Arg3798Cys | |
| XM_017009180.1:c.12487C>T | XP_016864669.1:p.Arg4163Cys | |
| XM_017009185.1:c.7576C>T | XP_016864674.1:p.Arg2526Cys | |
| XM_017009186.1:c.7129C>T | XP_016864675.1:p.Arg2377Cys | |
| XM_017009188.1:c.6466C>T | XP_016864677.1:p.Arg2156Cys | |
| XM_024454388.1:c.11392C>T | XP_024310156.1:p.Arg3798Cys | |
| XM_024454389.1:c.10981C>T | XP_024310157.1:p.Arg3661Cys | |
| NM_001369.3:c.12379C>T MANE Select | NP_001360.1:p.Arg4127Cys |