Linked Data
dbSNP Id:
rs763280915
ExAC:
8:61778020 C / A
gnomAD v2:
8-61778020-C-A
gnomAD v4:
8-60865461-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865461C>A , CM000670.2:g.60865461C>A | GRCh38 |
| NC_000008.10:g.61778020C>A , CM000670.1:g.61778020C>A | GRCh37 |
| NC_000008.9:g.61940574C>A | NCBI36 |
| NG_007009.1:g.191682C>A , LRG_176:g.191682C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1698C>A | ||
| ENST00000695852.1:n.629C>A | ||
| ENST00000695853.1:c.*1581C>A | ENSP00000512218.1:n.*1581C>A | |
| ENST00000423902.7:c.8522C>A MANE Select | ENSP00000392028.1:p.Ser2841Ter | |
| ENST00000423902.6:c.8522C>A | ENSP00000392028.1:p.Ser2841Ter | |
| ENST00000524602.5:c.2375C>A | ENSP00000437061.1:p.Ser792Ter | |
| NM_001316690.1:c.2375C>A | NP_001303619.1:p.Ser792Ter | |
| NM_017780.3:c.8522C>A | NP_060250.2:p.Ser2841Ter | |
| XM_011517553.1:c.8612C>A | XP_011515855.1:p.Ser2871Ter | |
| XM_011517554.1:c.8612C>A | XP_011515856.1:p.Ser2871Ter | |
| XM_011517555.1:c.8609C>A | XP_011515857.1:p.Ser2870Ter | |
| XM_011517556.1:c.8390C>A | XP_011515858.1:p.Ser2797Ter | |
| XM_011517557.1:c.6599C>A | XP_011515859.1:p.Ser2200Ter | |
| XM_011517558.1:c.6149C>A | XP_011515860.1:p.Ser2050Ter | |
| XM_011517559.1:c.5357C>A | XP_011515861.1:p.Ser1786Ter | |
| XM_011517553.2:c.8612C>A | XP_011515855.1:p.Ser2871Ter | |
| XM_011517554.3:c.8612C>A | XP_011515856.1:p.Ser2871Ter | |
| XM_011517555.2:c.8609C>A | XP_011515857.1:p.Ser2870Ter | |
| XM_017013612.1:c.8612C>A | XP_016869101.1:p.Ser2871Ter | |
| XM_017013613.1:c.8519C>A | XP_016869102.1:p.Ser2840Ter | |
| NM_017780.4:c.8522C>A MANE Select | NP_060250.2:p.Ser2841Ter |