Linked Data
ClinVar Variation Id:
259803
dbSNP Id:
rs756096336
ExAC:
9:113547963 C / A
gnomAD v2:
9-113547963-C-A
gnomAD v3:
9-110785683-C-A
gnomAD v4:
9-110785683-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110785683C>A , CM000671.2:g.110785683C>A | GRCh38 |
| NC_000009.11:g.113547963C>A , CM000671.1:g.113547963C>A | GRCh37 |
| NC_000009.10:g.112587784C>A | NCBI36 |
| NG_016016.1:g.121913C>A | |
| NG_016016.2:g.121893C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.1743C>A MANE Select | ENSP00000363571.4:p.Ile581= | |
| ENST00000189978.10:c.1485C>A | ENSP00000189978.6:p.Ile495= | |
| ENST00000374438.1:n.774C>A | ||
| ENST00000374440.7:c.1485C>A | ENSP00000363563.4:p.Ile495= | |
| ENST00000374448.8:c.1743C>A | ENSP00000363571.4:p.Ile581= | |
| ENST00000416899.7:c.1719C>A | ENSP00000393608.3:p.Ile573= | |
| NM_001166280.1:c.1485C>A | NP_001159752.1:p.Ile495= | |
| NM_001166281.1:c.1455C>A | NP_001159753.1:p.Ile485= | |
| NM_005592.3:c.1743C>A | NP_005583.1:p.Ile581= | |
| XM_005251994.2:c.1773C>A | XP_005252051.1:p.Ile591= | |
| XM_005251995.2:c.1749C>A | XP_005252052.1:p.Ile583= | |
| XM_005251996.2:c.1719C>A | XP_005252053.1:p.Ile573= | |
| XM_011518707.1:c.1803C>A | XP_011517009.1:p.Ile601= | |
| XM_011518708.1:c.507C>A | XP_011517010.1:p.Ile169= | |
| XM_005251994.3:c.1773C>A | XP_005252051.1:p.Ile591= | |
| XM_005251995.3:c.1749C>A | XP_005252052.1:p.Ile583= | |
| XM_005251996.3:c.1719C>A | XP_005252053.1:p.Ile573= | |
| XM_011518708.2:c.507C>A | XP_011517010.1:p.Ile169= | |
| XM_017014734.1:c.1509C>A | XP_016870223.1:p.Ile503= | |
| XR_001746892.1:n.40G>T | ||
| NM_001166280.2:c.1485C>A | NP_001159752.1:p.Ile495= | |
| NM_001166281.2:c.1455C>A | NP_001159753.1:p.Ile485= | |
| NM_001369398.1:c.483C>A | NP_001356327.1:p.Ile161= | |
| NM_005592.4:c.1743C>A MANE Select | NP_005583.1:p.Ile581= |