Linked Data
ClinVar Variation Id:
500028
dbSNP Id:
rs1289650070
gnomAD v2:
15-91565405-C-T
gnomAD v3:
15-91022175-C-T
gnomAD v4:
15-91022175-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91022175C>T , CM000677.2:g.91022175C>T | GRCh38 |
| NC_000015.9:g.91565405C>T , CM000677.1:g.91565405C>T | GRCh37 |
| NC_000015.8:g.89366409C>T | NCBI36 |
| NG_012162.1:g.5429G>A , LRG_884:g.5429G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.75G>A MANE Select | ENSP00000327650.4:p.Gln25= | |
| ENST00000643536.1:c.75G>A | ENSP00000494429.1:p.Gln25= | |
| ENST00000647331.1:c.75G>A | ENSP00000493953.1:p.Gln25= | |
| ENST00000333371.7:c.75G>A | ENSP00000327650.3:p.Gln25= | |
| ENST00000535906.1:c.75G>A | ENSP00000444053.1:p.Gln25= | |
| ENST00000556096.6:n.429G>A | ||
| ENST00000557358.1:n.422G>A | ||
| ENST00000574755.5:c.75G>A | ENSP00000460413.1:p.Gln25= | |
| NM_001289148.1:c.75G>A | NP_001276077.1:p.Gln25= | |
| NM_001289149.1:c.-137G>A | NP_001276078.1:n.-137G>A | |
| NM_018668.4:c.75G>A , LRG_884t1:c.75G>A | NP_061138.3:p.Gln25= | |
| XM_005254884.2:c.75G>A | XP_005254941.1:p.Gln25= | |
| XM_005254887.1:c.-56G>A | XP_005254944.1:n.-56G>A | |
| XM_005254888.2:c.75G>A | XP_005254945.1:p.Gln25= | |
| XM_011521448.1:c.-239G>A | XP_011519750.1:n.-239G>A | |
| XM_017022075.2:c.-287G>A | XP_016877564.1:n.-287G>A | |
| XM_017022076.1:c.-144G>A | XP_016877565.1:n.-144G>A | |
| XR_001751213.2:n.411G>A | ||
| NM_018668.5:c.75G>A MANE Select | NP_061138.3:p.Gln25= |