Linked Data
ClinVar Variation Id:
193124
dbSNP Id:
rs199891090
ExAC:
2:219646900 C / T
gnomAD v2:
2-219646900-C-T
gnomAD v3:
2-218782177-C-T
gnomAD v4:
2-218782177-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782177C>T , CM000664.2:g.218782177C>T | GRCh38 |
| NC_000002.11:g.219646900C>T , CM000664.1:g.219646900C>T | GRCh37 |
| NC_000002.10:g.219355144C>T | NCBI36 |
| NG_007959.1:g.5429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.-6C>T MANE Select | ENSP00000258415.4:n.-6C>T | |
| ENST00000258415.8:c.-6C>T | ENSP00000258415.4:n.-6C>T | |
| ENST00000445971.1:c.-6C>T | ENSP00000404945.1:n.-6C>T | |
| ENST00000466602.1:n.4C>T | ||
| ENST00000494263.5:n.429C>T | ||
| NM_000784.3:c.-6C>T | NP_000775.1:n.-6C>T | |
| XM_017003488.2:c.-235C>T | XP_016858977.1:n.-235C>T | |
| NM_000784.4:c.-6C>T MANE Select | NP_000775.1:n.-6C>T |