Linked Data
ClinVar Variation Id:
708103
dbSNP Id:
rs149026877
ExAC:
9:108536284 G / A
gnomAD v2:
9-108536284-G-A
gnomAD v3:
9-105774003-G-A
gnomAD v4:
9-105774003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.105774003G>A , CM000671.2:g.105774003G>A | GRCh38 |
| NC_000009.11:g.108536284G>A , CM000671.1:g.108536284G>A | GRCh37 |
| NC_000009.10:g.107576105G>A | NCBI36 |
| NG_032971.1:g.84479G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374692.8:c.799G>A MANE Select | ENSP00000363824.3:p.Val267Ile | |
| ENST00000374688.5:c.637G>A | ENSP00000363820.1:p.Val213Ile | |
| ENST00000374692.7:c.799G>A | ENSP00000363824.3:p.Val267Ile | |
| ENST00000435034.5:c.645G>A | ||
| NM_018112.2:c.799G>A | NP_060582.1:p.Val267Ile | |
| XM_005252075.2:c.637G>A | XP_005252132.1:p.Val213Ile | |
| XM_005252076.1:c.*157G>A | XP_005252133.1:n.*157G>A | |
| XM_011518829.1:c.*179G>A | XP_011517131.1:n.*179G>A | |
| XM_011518832.1:c.526G>A | XP_011517134.1:p.Val176Ile | |
| XM_011518833.1:c.451G>A | XP_011517135.1:p.Val151Ile | |
| XM_005252076.3:c.*157G>A | XP_005252133.1:n.*157G>A | |
| XM_005252077.3:c.*175G>A | XP_005252134.1:n.*175G>A | |
| XM_011518832.3:c.526G>A | XP_011517134.1:p.Val176Ile | |
| XM_011518833.3:c.451G>A | XP_011517135.1:p.Val151Ile | |
| NM_018112.3:c.799G>A MANE Select | NP_060582.1:p.Val267Ile |