Linked Data
ClinVar Variation Id:
499193
dbSNP Id:
rs555514820
ExAC:
4:52896002 G / A
gnomAD v2:
4-52896002-G-A
gnomAD v3:
4-52029836-G-A
gnomAD v4:
4-52029836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029836G>A , CM000666.2:g.52029836G>A | GRCh38 |
| NC_000004.11:g.52896002G>A , CM000666.1:g.52896002G>A | GRCh37 |
| NC_000004.10:g.52590759G>A | NCBI36 |
| NG_008891.1:g.13484C>T , LRG_204:g.13484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.271C>T MANE Select | ENSP00000370839.6:p.Arg91Cys | |
| ENST00000381431.9:c.271C>T | ENSP00000370839.5:p.Arg91Cys | |
| ENST00000506357.5:c.354C>T | ||
| ENST00000514133.1:c.348C>T | ENSP00000425818.1:n.348C>T | |
| NM_000232.4:c.271C>T , LRG_204t1:c.271C>T | NP_000223.1:p.Arg91Cys | |
| XM_006714049.2:c.-27C>T | XP_006714112.1:n.-27C>T | |
| XM_011534403.1:c.61C>T | XP_011532705.1:p.Arg21Cys | |
| XM_011534404.1:c.-27C>T | XP_011532706.1:n.-27C>T | |
| NM_000232.5:c.271C>T MANE Select | NP_000223.1:p.Arg91Cys |