Linked Data
dbSNP Id:
rs942227209
gnomAD v2:
2-219678711-C-T
gnomAD v3:
2-218813988-C-T
gnomAD v4:
2-218813988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218813988C>T , CM000664.2:g.218813988C>T | GRCh38 |
| NC_000002.11:g.219678711C>T , CM000664.1:g.219678711C>T | GRCh37 |
| NC_000002.10:g.219386955C>T | NCBI36 |
| NG_007959.1:g.37240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1018-33C>T MANE Select | ENSP00000258415.4:n.1018-33C>T | |
| ENST00000258415.8:c.1018-33C>T | ENSP00000258415.4:n.1018-33C>T | |
| ENST00000445971.1:c.*479-33C>T | ENSP00000404945.1:n.*479-33C>T | |
| ENST00000466602.1:n.1140-33C>T | ||
| ENST00000494263.5:n.1452-33C>T | ||
| NM_000784.3:c.1018-33C>T | NP_000775.1:n.1018-33C>T | |
| XM_017003488.2:c.598-33C>T | XP_016858977.1:n.598-33C>T | |
| NM_000784.4:c.1018-33C>T MANE Select | NP_000775.1:n.1018-33C>T |