Linked Data
dbSNP Id:
rs563191269
gnomAD v2:
3-39438405-C-T
gnomAD v3:
3-39396914-C-T
gnomAD v4:
3-39396914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39396914C>T , CM000665.2:g.39396914C>T | GRCh38 |
| NC_000003.11:g.39438405C>T , CM000665.1:g.39438405C>T | GRCh37 |
| NC_000003.10:g.39413409C>T | NCBI36 |
| NG_016931.1:g.18591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643672.1:c.*394C>T | ENSP00000494532.1:n.*394C>T | |
| ENST00000648579.1:c.*606C>T | ENSP00000497638.1:n.*606C>T | |
| ENST00000650617.1:c.*394C>T MANE Select | ENSP00000497532.1:n.*394C>T | |
| ENST00000273158.8:c.*394C>T | ENSP00000273158.3:n.*394C>T | |
| NM_017875.2:c.*394C>T | NP_060345.2:n.*394C>T | |
| XM_006713214.1:c.*394C>T | XP_006713277.1:n.*394C>T | |
| XM_011533869.1:c.*394C>T | XP_011532171.1:n.*394C>T | |
| XM_011533870.1:c.*394C>T | XP_011532172.1:n.*394C>T | |
| XM_011533871.1:c.*394C>T | XP_011532173.1:n.*394C>T | |
| NM_001354798.1:c.*428C>T | NP_001341727.1:n.*428C>T | |
| NM_017875.4:c.*394C>T MANE Select | NP_060345.2:n.*394C>T | |
| XM_006713214.2:c.*394C>T | XP_006713277.1:n.*394C>T | |
| XM_011533869.2:c.*394C>T | XP_011532171.1:n.*394C>T | |
| XM_024453611.1:c.*394C>T | XP_024309379.1:n.*394C>T | |
| NM_001354798.2:c.*428C>T | NP_001341727.1:n.*428C>T |