Linked Data
dbSNP Id:
rs780751677
ExAC:
3:87302521 T / G
gnomAD v2:
3-87302521-T-G
gnomAD v4:
3-87253371-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87253371T>G , CM000665.2:g.87253371T>G | GRCh38 |
| NC_000003.11:g.87302521T>G , CM000665.1:g.87302521T>G | GRCh37 |
| NC_000003.10:g.87385211T>G | NCBI36 |
| NG_007885.1:g.31109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.425-33T>G MANE Select | ENSP00000263780.4:n.425-33T>G | |
| ENST00000472024.3:c.473-33T>G | ENSP00000480032.2:n.473-33T>G | |
| ENST00000676705.1:c.473-33T>G | ENSP00000504098.1:n.473-33T>G | |
| ENST00000677929.1:n.4056T>G | ||
| ENST00000678859.1:n.4141T>G | ||
| ENST00000263780.8:c.425-33T>G | ENSP00000263780.4:n.425-33T>G | |
| ENST00000466696.1:n.323T>G | ||
| ENST00000471660.5:c.302-33T>G | ENSP00000419998.1:n.302-33T>G | |
| ENST00000472024.2:c.473-33T>G | ENSP00000480032.1:n.473-33T>G | |
| ENST00000494980.5:c.335-33T>G | ENSP00000418920.1:n.335-33T>G | |
| NM_001244644.1:c.302-33T>G | NP_001231573.1:n.302-33T>G | |
| NM_014043.3:c.425-33T>G | NP_054762.2:n.425-33T>G | |
| XM_011533576.1:c.473-33T>G | XP_011531878.1:n.473-33T>G | |
| XM_011533576.2:c.473-33T>G | XP_011531878.1:n.473-33T>G | |
| NM_014043.4:c.425-33T>G MANE Select | NP_054762.2:n.425-33T>G | |
| NM_001244644.2:c.302-33T>G | NP_001231573.1:n.302-33T>G |