Linked Data
dbSNP Id:
rs753166193
ExAC:
9:140033909 C / T
gnomAD v2:
9-140033909-C-T
gnomAD v3:
9-137139457-C-T
gnomAD v4:
9-137139457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137139457C>T , CM000671.2:g.137139457C>T | GRCh38 |
| NC_000009.11:g.140033909C>T , CM000671.1:g.140033909C>T | GRCh37 |
| NC_000009.10:g.139153730C>T | NCBI36 |
| NG_011507.1:g.5301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371553.8:c.-30C>T | ENSP00000360608.3:n.-30C>T | |
| ENST00000371560.5:c.-30C>T | ENSP00000360615.3:n.-30C>T | |
| ENST00000371561.8:c.-30C>T MANE Select | ENSP00000360616.3:n.-30C>T | |
| ENST00000350902.9:c.-30C>T | ENSP00000316915.9:n.-30C>T | |
| ENST00000371561.7:c.-30C>T | ENSP00000360616.3:n.-30C>T | |
| ENST00000471122.5:n.48C>T | ||
| NM_000832.6:c.-30C>T | NP_000823.4:n.-30C>T | |
| NM_001185090.1:c.-30C>T | NP_001172019.1:n.-30C>T | |
| NM_001185091.1:c.-30C>T | NP_001172020.1:n.-30C>T | |
| NM_007327.3:c.-30C>T | NP_015566.1:n.-30C>T | |
| NM_021569.3:c.-30C>T | NP_067544.1:n.-30C>T | |
| XM_005266071.2:c.-30C>T | XP_005266128.1:n.-30C>T | |
| XM_005266072.2:c.-30C>T | XP_005266129.1:n.-30C>T | |
| XM_005266073.3:c.-30C>T | XP_005266130.1:n.-30C>T | |
| XM_011518583.1:c.-30C>T | XP_011516885.1:n.-30C>T | |
| XM_005266072.3:c.-30C>T | XP_005266129.1:n.-30C>T | |
| XM_005266073.4:c.-30C>T | XP_005266130.1:n.-30C>T | |
| XM_011518583.2:c.-30C>T | XP_011516885.1:n.-30C>T | |
| NM_007327.4:c.-30C>T MANE Select | NP_015566.1:n.-30C>T | |
| NM_000832.7:c.-30C>T | NP_000823.4:n.-30C>T | |
| NM_001185090.2:c.-30C>T | NP_001172019.1:n.-30C>T | |
| NM_001185091.2:c.-30C>T | NP_001172020.1:n.-30C>T | |
| NM_021569.4:c.-30C>T | NP_067544.1:n.-30C>T |