Linked Data
dbSNP Id:
rs774901601
ExAC:
16:28948917 C / T
gnomAD v2:
16-28948917-C-T
gnomAD v3:
16-28937596-C-T
gnomAD v4:
16-28937596-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28937596C>T , CM000678.2:g.28937596C>T | GRCh38 |
| NC_000016.9:g.28948917C>T , CM000678.1:g.28948917C>T | GRCh37 |
| NC_000016.8:g.28856418C>T | NCBI36 |
| NG_007275.1:g.10658C>T , LRG_35:g.10658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324662.8:c.1373-28C>T | ENSP00000313419.4:n.1373-28C>T | |
| ENST00000538922.8:c.1373-28C>T MANE Select | ENSP00000437940.2:n.1373-28C>T | |
| ENST00000324662.7:c.1373-28C>T | ENSP00000313419.3:n.1373-28C>T | |
| ENST00000538922.5:c.1373-28C>T | ENSP00000437940.1:n.1373-28C>T | |
| ENST00000565089.5:n.1779C>T | ||
| ENST00000567368.1:n.513-28C>T | ||
| ENST00000567541.5:c.1373-28C>T | ENSP00000456201.1:n.1373-28C>T | |
| ENST00000611258.4:c.1372-28C>T | ENSP00000481090.1:n.1372-28C>T | |
| NM_001178098.1:c.1373-28C>T | NP_001171569.1:n.1373-28C>T | |
| NM_001770.5:c.1373-28C>T , LRG_35t1:c.1373-28C>T | NP_001761.3:n.1373-28C>T | |
| XM_006721103.2:c.1106-28C>T | XP_006721166.1:n.1106-28C>T | |
| XM_006721103.3:c.1106-28C>T | XP_006721166.1:n.1106-28C>T | |
| XM_017023893.1:c.1106-28C>T | XP_016879382.1:n.1106-28C>T | |
| NM_001178098.2:c.1373-28C>T | NP_001171569.1:n.1373-28C>T | |
| NM_001770.6:c.1373-28C>T MANE Select | NP_001761.3:n.1373-28C>T | |
| NM_001385732.1:c.1106-28C>T | NP_001372661.1:n.1106-28C>T | |
| NR_169755.1:n.1715-28C>T |