Linked Data
dbSNP Id:
rs758632598
ExAC:
1:9017348 C / T
gnomAD v2:
1-9017348-C-T
gnomAD v4:
1-8957289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8957289C>T , CM000663.2:g.8957289C>T | GRCh38 |
| NC_000001.10:g.9017348C>T , CM000663.1:g.9017348C>T | GRCh37 |
| NC_000001.9:g.8939935C>T | NCBI36 |
| NG_033975.1:g.16456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377443.7:c.408+4C>T MANE Select | ENSP00000366662.2:n.408+4C>T | |
| ENST00000377436.6:c.408+4C>T | ENSP00000366654.3:n.408+4C>T | |
| ENST00000377442.3:c.228+4C>T | ENSP00000366661.2:n.228+4C>T | |
| ENST00000377443.6:c.408+4C>T | ENSP00000366662.2:n.408+4C>T | |
| ENST00000476083.1:n.99-1621C>T | ||
| ENST00000549778.5:c.312+4C>T | ENSP00000447108.1:n.312+4C>T | |
| NM_001215.3:c.408+4C>T | NP_001206.2:n.408+4C>T | |
| NM_001270500.1:c.408+4C>T | NP_001257429.1:n.408+4C>T | |
| NM_001270501.1:c.228+4C>T | NP_001257430.1:n.228+4C>T | |
| NM_001270502.1:c.25-1621C>T | NP_001257431.1:n.25-1621C>T | |
| XM_011542083.1:c.420+4C>T | XP_011540385.1:n.420+4C>T | |
| XM_011542084.1:c.420+4C>T | XP_011540386.1:n.420+4C>T | |
| XM_011542083.3:c.420+4C>T | XP_011540385.1:n.420+4C>T | |
| XM_011542084.3:c.420+4C>T | XP_011540386.1:n.420+4C>T | |
| NM_001215.4:c.408+4C>T MANE Select | NP_001206.2:n.408+4C>T | |
| NM_001270500.2:c.408+4C>T | NP_001257429.1:n.408+4C>T | |
| NM_001270501.2:c.228+4C>T | NP_001257430.1:n.228+4C>T | |
| NM_001270502.2:c.25-1621C>T | NP_001257431.1:n.25-1621C>T |