ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110800669T>C , CM000671.2:g.110800669T>C | GRCh38 |
| NC_000009.11:g.113562949T>C , CM000671.1:g.113562949T>C | GRCh37 |
| NC_000009.10:g.112602770T>C | NCBI36 |
| NG_016016.1:g.136899T>C | |
| NG_016016.2:g.136879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.2291T>C MANE Select | ENSP00000363571.4:p.Ile764Thr | |
| ENST00000189978.10:c.2033T>C | ENSP00000189978.6:p.Ile678Thr | |
| ENST00000374440.7:c.2033T>C | ENSP00000363563.4:p.Ile678Thr | |
| ENST00000374448.8:c.2291T>C | ENSP00000363571.4:p.Ile764Thr | |
| ENST00000416899.7:c.2267T>C | ENSP00000393608.3:p.Ile756Thr | |
| NM_001166280.1:c.2033T>C | NP_001159752.1:p.Ile678Thr | |
| NM_001166281.1:c.2003T>C | NP_001159753.1:p.Ile668Thr | |
| NM_005592.3:c.2291T>C | NP_005583.1:p.Ile764Thr | |
| XM_005251994.2:c.2321T>C | XP_005252051.1:p.Ile774Thr | |
| XM_005251995.2:c.2297T>C | XP_005252052.1:p.Ile766Thr | |
| XM_005251996.2:c.2267T>C | XP_005252053.1:p.Ile756Thr | |
| XM_011518707.1:c.2351T>C | XP_011517009.1:p.Ile784Thr | |
| XM_011518708.1:c.1055T>C | XP_011517010.1:p.Ile352Thr | |
| XM_005251994.3:c.2321T>C | XP_005252051.1:p.Ile774Thr | |
| XM_005251995.3:c.2297T>C | XP_005252052.1:p.Ile766Thr | |
| XM_005251996.3:c.2267T>C | XP_005252053.1:p.Ile756Thr | |
| XM_011518708.2:c.1055T>C | XP_011517010.1:p.Ile352Thr | |
| XM_017014734.1:c.2057T>C | XP_016870223.1:p.Ile686Thr | |
| NM_001166280.2:c.2033T>C | NP_001159752.1:p.Ile678Thr | |
| NM_001166281.2:c.2003T>C | NP_001159753.1:p.Ile668Thr | |
| NM_001369398.1:c.1031T>C | NP_001356327.1:p.Ile344Thr | |
| NM_005592.4:c.2291T>C MANE Select | NP_005583.1:p.Ile764Thr |