Linked Data
dbSNP Id:
rs782757472
ExAC:
12:6978068 C / T
gnomAD v2:
12-6978068-C-T
gnomAD v4:
12-6868904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6868904C>T , CM000674.2:g.6868904C>T | GRCh38 |
| NC_000012.11:g.6978068C>T , CM000674.1:g.6978068C>T | GRCh37 |
| NC_000012.10:g.6848329C>T | NCBI36 |
| NG_011948.1:g.6485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.156C>T MANE Select | ENSP00000379933.4:p.Ala52= | |
| ENST00000229270.8:c.267C>T | ENSP00000229270.4:p.Ala89= | |
| ENST00000396705.9:c.156C>T | ENSP00000379933.4:p.Ala52= | |
| ENST00000462761.5:c.-91C>T | ENSP00000475184.1:n.-91C>T | |
| ENST00000488464.6:c.-91C>T | ENSP00000475620.1:n.-91C>T | |
| ENST00000493987.5:c.-91C>T | ENSP00000475364.1:n.-91C>T | |
| ENST00000495834.1:c.-91C>T | ENSP00000475829.1:n.-91C>T | |
| ENST00000535434.5:c.-91C>T | ENSP00000443599.1:n.-91C>T | |
| ENST00000613953.4:c.267C>T | ENSP00000484435.1:p.Ala89= | |
| NM_000365.5:c.156C>T | NP_000356.1:p.Ala52= | |
| NM_001159287.1:c.267C>T | NP_001152759.1:p.Ala89= | |
| NM_001258026.1:c.-91C>T | NP_001244955.1:n.-91C>T | |
| XR_002957378.1:n.889C>T | ||
| NM_000365.6:c.156C>T MANE Select | NP_000356.1:p.Ala52= | |
| NM_001258026.2:c.-91C>T | NP_001244955.1:n.-91C>T |