Linked Data
dbSNP Id:
rs115965187
gnomAD v2:
3-178983060-C-T
gnomAD v3:
3-179265272-C-T
gnomAD v4:
3-179265272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179265272C>T , CM000665.2:g.179265272C>T | GRCh38 |
| NC_000003.11:g.178983060C>T , CM000665.1:g.178983060C>T | GRCh37 |
| NC_000003.10:g.180465754C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349697.2:c.62+1377G>A | ENSP00000327866.2:n.62+1377G>A | |
| ENST00000497599.5:c.62+1377G>A | ENSP00000417091.1:n.62+1377G>A | |
| NM_001163677.1:c.62+1377G>A | NP_001157149.1:n.62+1377G>A | |
| NM_171828.2:c.62+1377G>A | NP_741979.1:n.62+1377G>A | |
| NM_001163677.2:c.62+1377G>A | NP_001157149.1:n.62+1377G>A | |
| NM_171828.3:c.62+1377G>A | NP_741979.1:n.62+1377G>A |