Linked Data
ClinVar Variation Id:
2356181
ClinVar RCV Id:
RCV004197791
dbSNP Id:
rs147817006
ExAC:
14:65016720 A / G
gnomAD v2:
14-65016720-A-G
gnomAD v3:
14-64550002-A-G
gnomAD v4:
14-64550002-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64550002A>G , CM000676.2:g.64550002A>G | GRCh38 |
| NC_000014.8:g.65016720A>G , CM000676.1:g.65016720A>G | GRCh37 |
| NC_000014.7:g.64086473A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298705.6:c.5A>G MANE Select | ENSP00000298705.1:p.Tyr2Cys | |
| ENST00000298705.5:c.5A>G | ENSP00000298705.1:p.Tyr2Cys | |
| ENST00000467261.5:c.5A>G | ENSP00000435229.1:p.Tyr2Cys | |
| ENST00000555645.5:c.5A>G | ENSP00000451900.1:p.Tyr2Cys | |
| NM_172365.2:c.5A>G | NP_758953.1:p.Tyr2Cys | |
| XM_005267355.2:c.-63A>G | XP_005267412.1:n.-63A>G | |
| XM_011536468.1:c.5A>G | XP_011534770.1:p.Tyr2Cys | |
| XM_005267355.4:c.-63A>G | XP_005267412.1:n.-63A>G | |
| XM_011536468.3:c.5A>G | XP_011534770.1:p.Tyr2Cys | |
| XM_024449485.1:c.-449A>G | XP_024305253.1:n.-449A>G | |
| NM_172365.3:c.5A>G MANE Select | NP_758953.1:p.Tyr2Cys |