Linked Data
ClinVar Variation Id:
3013401
ClinVar RCV Id:
RCV003870496
dbSNP Id:
rs1251539185
gnomAD v2:
2-219678725-C-T
gnomAD v4:
2-218814002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814002C>T , CM000664.2:g.218814002C>T | GRCh38 |
| NC_000002.11:g.219678725C>T , CM000664.1:g.219678725C>T | GRCh37 |
| NC_000002.10:g.219386969C>T | NCBI36 |
| NG_007959.1:g.37254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1018-19C>T MANE Select | ENSP00000258415.4:n.1018-19C>T | |
| ENST00000258415.8:c.1018-19C>T | ENSP00000258415.4:n.1018-19C>T | |
| ENST00000445971.1:c.*479-19C>T | ENSP00000404945.1:n.*479-19C>T | |
| ENST00000466602.1:n.1140-19C>T | ||
| ENST00000494263.5:n.1452-19C>T | ||
| NM_000784.3:c.1018-19C>T | NP_000775.1:n.1018-19C>T | |
| XM_017003488.2:c.598-19C>T | XP_016858977.1:n.598-19C>T | |
| NM_000784.4:c.1018-19C>T MANE Select | NP_000775.1:n.1018-19C>T |