Linked Data
dbSNP Id:
rs2240338
gnomAD v2:
1-17674185-C-T
gnomAD v3:
1-17347690-C-T
gnomAD v4:
1-17347690-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17347690C>T , CM000663.2:g.17347690C>T | GRCh38 |
| NC_000001.10:g.17674185C>T , CM000663.1:g.17674185C>T | GRCh37 |
| NC_000001.9:g.17546772C>T | NCBI36 |
| NG_023261.2:g.44501C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1048-251C>T MANE Select | ENSP00000364597.4:n.1048-251C>T | |
| ENST00000468945.1:n.107-251C>T | ||
| NM_012387.2:c.1048-251C>T | NP_036519.2:n.1048-251C>T | |
| XM_011541150.1:c.862-251C>T | XP_011539452.1:n.862-251C>T | |
| XM_011541151.1:c.1048-251C>T | XP_011539453.1:n.1048-251C>T | |
| XM_011541152.1:c.511-251C>T | XP_011539454.1:n.511-251C>T | |
| XM_011541153.1:c.1048-251C>T | XP_011539455.1:n.1048-251C>T | |
| XM_011541154.1:c.1048-251C>T | XP_011539456.1:n.1048-251C>T | |
| XM_011541155.1:c.1048-251C>T | XP_011539457.1:n.1048-251C>T | |
| XM_011541156.1:c.1048-251C>T | XP_011539458.1:n.1048-251C>T | |
| XM_011541157.1:c.157-251C>T | XP_011539459.1:n.157-251C>T | |
| XM_011541154.2:c.1048-251C>T | XP_011539456.1:n.1048-251C>T | |
| NM_012387.3:c.1048-251C>T MANE Select | NP_036519.2:n.1048-251C>T |