Linked Data
ClinVar Variation Id:
2804725
ClinVar RCV Id:
RCV003684244
dbSNP Id:
rs376736752
ExAC:
2:233406069 G / T
gnomAD v2:
2-233406069-G-T
gnomAD v3:
2-232541359-G-T
gnomAD v4:
2-232541359-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541359G>T , CM000664.2:g.232541359G>T | GRCh38 |
| NC_000002.11:g.233406069G>T , CM000664.1:g.233406069G>T | GRCh37 |
| NC_000002.10:g.233114313G>T | NCBI36 |
| NG_012954.1:g.6633G>T | |
| NG_012954.2:g.6668G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.351-15G>T MANE Select | ENSP00000498757.1:n.351-15G>T | |
| ENST00000389492.3:c.350+648G>T | ENSP00000374143.3:n.350+648G>T | |
| ENST00000389494.7:c.351-15G>T | ENSP00000374145.3:n.351-15G>T | |
| ENST00000485094.1:n.372-15G>T | ||
| NM_005199.4:c.351-15G>T | NP_005190.4:n.351-15G>T | |
| NM_005199.5:c.351-15G>T MANE Select | NP_005190.4:n.351-15G>T |