Linked Data
dbSNP Id:
rs527776708
ExAC:
9:131303461 C / T
gnomAD v2:
9-131303461-C-T
gnomAD v3:
9-128541182-C-T
gnomAD v4:
9-128541182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541182C>T , CM000671.2:g.128541182C>T | GRCh38 |
| NC_000009.11:g.131303461C>T , CM000671.1:g.131303461C>T | GRCh37 |
| NC_000009.10:g.130343282C>T | NCBI36 |
| NG_012073.1:g.41491C>T , LRG_484:g.41491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1180C>T | ENSP00000507095.1:n.*1180C>T | |
| ENST00000683288.1:c.*2108C>T | ENSP00000507477.1:n.*2108C>T | |
| ENST00000683748.1:c.*12C>T | ENSP00000507377.1:n.*12C>T | |
| ENST00000683905.1:c.*785C>T | ENSP00000506960.1:n.*785C>T | |
| ENST00000684139.1:c.*12C>T | ENSP00000507295.1:n.*12C>T | |
| ENST00000684210.1:n.1822C>T | ||
| ENST00000684314.1:c.*12C>T | ENSP00000507700.1:n.*12C>T | |
| ENST00000684331.1:c.*829C>T | ENSP00000507431.1:n.*829C>T | |
| ENST00000684463.1:n.747C>T | ||
| ENST00000684646.1:c.*12C>T | ENSP00000507723.1:n.*12C>T | |
| ENST00000309971.9:c.*12C>T MANE Select | ENSP00000308622.5:n.*12C>T | |
| ENST00000309971.8:c.*12C>T | ENSP00000308622.4:n.*12C>T | |
| NM_001003722.1:c.*12C>T , LRG_484t1:c.*12C>T | NP_001003722.1:n.*12C>T | |
| XM_006717059.2:c.*12C>T | XP_006717122.1:n.*12C>T | |
| XM_006717060.2:c.*12C>T | XP_006717123.1:n.*12C>T | |
| XM_011518549.1:c.*12C>T | XP_011516851.1:n.*12C>T | |
| XM_011518550.1:c.*12C>T | XP_011516852.1:n.*12C>T | |
| XM_011518551.1:c.*12C>T | XP_011516853.1:n.*12C>T | |
| XM_011518552.1:c.*12C>T | XP_011516854.1:n.*12C>T | |
| XR_242681.3:n.100+2197G>A | ||
| XM_006717059.3:c.*12C>T | XP_006717122.1:n.*12C>T | |
| XM_006717060.3:c.*12C>T | XP_006717123.1:n.*12C>T | |
| XM_011518551.2:c.*12C>T | XP_011516853.1:n.*12C>T | |
| XM_024447519.1:c.*12C>T | XP_024303287.1:n.*12C>T | |
| NM_001003722.2:c.*12C>T MANE Select | NP_001003722.1:n.*12C>T |