Linked Data
ClinVar Variation Id:
533180
dbSNP Id:
rs749312775
gnomAD v2:
17-63533526-C-A
gnomAD v3:
17-65537408-C-A
gnomAD v4:
17-65537408-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65537408C>A , CM000679.2:g.65537408C>A | GRCh38 |
| NC_000017.10:g.63533526C>A , CM000679.1:g.63533526C>A | GRCh37 |
| NC_000017.9:g.60963988C>A | NCBI36 |
| NG_012142.1:g.29215G>T , LRG_296:g.29215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307078.10:c.1628G>T MANE Select | ENSP00000302625.5:p.Cys543Phe | |
| ENST00000307078.9:c.1628G>T | ENSP00000302625.5:p.Cys543Phe | |
| ENST00000375702.5:c.1628G>T | ENSP00000364854.5:p.Cys543Phe | |
| ENST00000611991.1:c.397-8708G>T | ENSP00000481191.1:n.397-8708G>T | |
| ENST00000618960.4:c.1628G>T | ENSP00000478916.1:p.Cys543Phe | |
| NM_004655.3:c.1628G>T , LRG_296t1:c.1628G>T | NP_004646.3:p.Cys543Phe | |
| XM_011525319.1:c.1628G>T | XP_011523621.1:p.Cys543Phe | |
| XM_011525320.1:c.1628G>T | XP_011523622.1:p.Cys543Phe | |
| XM_011525321.1:c.1628G>T | XP_011523623.1:p.Cys543Phe | |
| XM_011525322.1:c.1628G>T | XP_011523624.1:p.Cys543Phe | |
| NM_001363813.1:c.1628G>T | NP_001350742.1:p.Cys543Phe | |
| NM_004655.4:c.1628G>T MANE Select | NP_004646.3:p.Cys543Phe | |
| XM_011525319.2:c.1628G>T | XP_011523621.1:p.Cys543Phe | |
| XM_011525321.2:c.1628G>T | XP_011523623.1:p.Cys543Phe | |
| XM_017025192.1:c.1628G>T | XP_016880681.1:p.Cys543Phe | |
| XM_017025193.1:c.1628G>T | XP_016880682.1:p.Cys543Phe |