Linked Data
ClinVar Variation Id:
2731645
ClinVar RCV Id:
RCV003501632
dbSNP Id:
rs1312245511
gnomAD v2:
3-120347396-G-C
gnomAD v3:
3-120628549-G-C
gnomAD v4:
3-120628549-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628549G>C , CM000665.2:g.120628549G>C | GRCh38 |
| NC_000003.11:g.120347396G>C , CM000665.1:g.120347396G>C | GRCh37 |
| NC_000003.10:g.121830086G>C | NCBI36 |
| NG_011957.1:g.58933C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1189-20C>G MANE Select | ENSP00000283871.5:n.1189-20C>G | |
| ENST00000283871.9:c.1189-20C>G | ENSP00000283871.5:n.1189-20C>G | |
| ENST00000492108.5:c.468-20C>G | ENSP00000419838.1:n.468-20C>G | |
| NM_000187.3:c.1189-20C>G | NP_000178.2:n.1189-20C>G | |
| XM_005247412.1:c.964-20C>G | XP_005247469.1:n.964-20C>G | |
| XM_005247412.2:c.964-20C>G | XP_005247469.1:n.964-20C>G | |
| XM_017006277.2:c.766-20C>G | XP_016861766.1:n.766-20C>G | |
| NM_000187.4:c.1189-20C>G MANE Select | NP_000178.2:n.1189-20C>G |