ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110800670C>T , CM000671.2:g.110800670C>T | GRCh38 |
| NC_000009.11:g.113562950C>T , CM000671.1:g.113562950C>T | GRCh37 |
| NC_000009.10:g.112602771C>T | NCBI36 |
| NG_016016.1:g.136900C>T | |
| NG_016016.2:g.136880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.2292C>T MANE Select | ENSP00000363571.4:p.Ile764= | |
| ENST00000189978.10:c.2034C>T | ENSP00000189978.6:p.Ile678= | |
| ENST00000374440.7:c.2034C>T | ENSP00000363563.4:p.Ile678= | |
| ENST00000374448.8:c.2292C>T | ENSP00000363571.4:p.Ile764= | |
| ENST00000416899.7:c.2268C>T | ENSP00000393608.3:p.Ile756= | |
| NM_001166280.1:c.2034C>T | NP_001159752.1:p.Ile678= | |
| NM_001166281.1:c.2004C>T | NP_001159753.1:p.Ile668= | |
| NM_005592.3:c.2292C>T | NP_005583.1:p.Ile764= | |
| XM_005251994.2:c.2322C>T | XP_005252051.1:p.Ile774= | |
| XM_005251995.2:c.2298C>T | XP_005252052.1:p.Ile766= | |
| XM_005251996.2:c.2268C>T | XP_005252053.1:p.Ile756= | |
| XM_011518707.1:c.2352C>T | XP_011517009.1:p.Ile784= | |
| XM_011518708.1:c.1056C>T | XP_011517010.1:p.Ile352= | |
| XM_005251994.3:c.2322C>T | XP_005252051.1:p.Ile774= | |
| XM_005251995.3:c.2298C>T | XP_005252052.1:p.Ile766= | |
| XM_005251996.3:c.2268C>T | XP_005252053.1:p.Ile756= | |
| XM_011518708.2:c.1056C>T | XP_011517010.1:p.Ile352= | |
| XM_017014734.1:c.2058C>T | XP_016870223.1:p.Ile686= | |
| NM_001166280.2:c.2034C>T | NP_001159752.1:p.Ile678= | |
| NM_001166281.2:c.2004C>T | NP_001159753.1:p.Ile668= | |
| NM_001369398.1:c.1032C>T | NP_001356327.1:p.Ile344= | |
| NM_005592.4:c.2292C>T MANE Select | NP_005583.1:p.Ile764= |