Linked Data
ClinVar Variation Id:
1278306
ClinVar RCV Id:
RCV001695047
dbSNP Id:
rs12708980
gnomAD v2:
16-57012379-T-G
gnomAD v3:
16-56978467-T-G
gnomAD v4:
16-56978467-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56978467T>G , CM000678.2:g.56978467T>G | GRCh38 |
| NC_000016.9:g.57012379T>G , CM000678.1:g.57012379T>G | GRCh37 |
| NC_000016.8:g.55569880T>G | NCBI36 |
| NG_008952.1:g.21545T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.1146+212T>G MANE Select | ENSP00000200676.3:n.1146+212T>G | |
| ENST00000650358.1:n.1544+212T>G | ||
| ENST00000200676.7:c.1146+212T>G | ENSP00000200676.3:n.1146+212T>G | |
| ENST00000379780.6:c.966+212T>G | ENSP00000369106.2:n.966+212T>G | |
| ENST00000566128.1:c.951+212T>G | ENSP00000456276.1:n.951+212T>G | |
| NM_000078.2:c.1146+212T>G | NP_000069.2:n.1146+212T>G | |
| NM_001286085.1:c.966+212T>G | NP_001273014.1:n.966+212T>G | |
| NM_000078.3:c.1146+212T>G MANE Select | NP_000069.2:n.1146+212T>G | |
| NM_001286085.2:c.966+212T>G | NP_001273014.1:n.966+212T>G |