Linked Data
ClinVar Variation Id:
5613
dbSNP Id:
rs28937869
ExAC:
5:177035995 C / T
gnomAD v2:
5-177035995-C-T
gnomAD v3:
5-177608994-C-T
gnomAD v4:
5-177608994-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177608994C>T , CM000667.2:g.177608994C>T | GRCh38 |
| NC_000005.9:g.177035995C>T , CM000667.1:g.177035995C>T | GRCh37 |
| NC_000005.8:g.176968601C>T | NCBI36 |
| NG_015977.1:g.13877C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000029410.10:c.808C>T MANE Select | ENSP00000029410.5:p.Arg270Cys | |
| ENST00000029410.9:c.808C>T | ENSP00000029410.5:p.Arg270Cys | |
| ENST00000505145.1:n.1906C>T | ||
| ENST00000505433.5:c.*314C>T | ENSP00000425591.1:n.*314C>T | |
| ENST00000515353.1:n.1630C>T | ||
| NM_007255.2:c.808C>T | NP_009186.1:p.Arg270Cys | |
| XM_005265805.2:c.466C>T | XP_005265862.1:p.Arg156Cys | |
| XM_006714816.2:c.328C>T | XP_006714879.1:p.Arg110Cys | |
| XM_011534421.1:c.466C>T | XP_011532723.1:p.Arg156Cys | |
| XM_006714816.4:c.328C>T | XP_006714879.1:p.Arg110Cys | |
| XM_017008999.2:c.466C>T | XP_016864488.1:p.Arg156Cys | |
| NM_007255.3:c.808C>T MANE Select | NP_009186.1:p.Arg270Cys |