Linked Data
dbSNP Id:
rs1801173
ExAC:
1:3598910 C / T
gnomAD v2:
1-3598910-C-T
gnomAD v3:
1-3682346-C-T
gnomAD v4:
1-3682346-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3682346C>T , CM000663.2:g.3682346C>T | GRCh38 |
| NC_000001.10:g.3598910C>T , CM000663.1:g.3598910C>T | GRCh37 |
| NC_000001.9:g.3588770C>T | NCBI36 |
| NG_017035.2:g.34782C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000603362.6:c.-20C>T | ENSP00000474626.1:n.-20C>T | |
| ENST00000604479.6:c.-20C>T | ENSP00000474322.1:n.-20C>T | |
| ENST00000713570.1:c.-20C>T | ENSP00000518863.1:n.-20C>T | |
| ENST00000713571.1:n.93C>T | ||
| ENST00000713572.1:c.-20C>T | ENSP00000518864.1:n.-20C>T | |
| ENST00000378295.9:c.-20C>T MANE Select | ENSP00000367545.4:n.-20C>T | |
| ENST00000346387.8:c.-20C>T | ENSP00000340740.4:n.-20C>T | |
| ENST00000354437.8:c.-20C>T | ENSP00000346423.4:n.-20C>T | |
| ENST00000357733.7:c.-20C>T | ENSP00000350366.3:n.-20C>T | |
| ENST00000378295.8:c.-20C>T | ENSP00000367545.4:n.-20C>T | |
| ENST00000604074.5:c.-20C>T | ENSP00000475143.1:n.-20C>T | |
| NM_001204184.1:c.-20C>T | NP_001191113.1:n.-20C>T | |
| NM_001204185.1:c.-20C>T | NP_001191114.1:n.-20C>T | |
| NM_001204186.1:c.-20C>T | NP_001191115.1:n.-20C>T | |
| NM_001204187.1:c.-20C>T | NP_001191116.1:n.-20C>T | |
| NM_001204188.1:c.-20C>T | NP_001191117.1:n.-20C>T | |
| NM_005427.3:c.-20C>T | NP_005418.1:n.-20C>T | |
| XM_011542064.1:c.-20C>T | XP_011540366.1:n.-20C>T | |
| NM_005427.4:c.-20C>T MANE Select | NP_005418.1:n.-20C>T | |
| NM_001204184.2:c.-20C>T | NP_001191113.1:n.-20C>T | |
| NM_001204185.2:c.-20C>T | NP_001191114.1:n.-20C>T | |
| NM_001204186.2:c.-20C>T | NP_001191115.1:n.-20C>T | |
| NM_001204187.2:c.-20C>T | NP_001191116.1:n.-20C>T | |
| NM_001204188.2:c.-20C>T | NP_001191117.1:n.-20C>T |