Linked Data
ClinVar Variation Id:
2620630
ClinVar RCV Id:
RCV003384850
dbSNP Id:
rs139312740
ExAC:
3:165547727 G / C
gnomAD v2:
3-165547727-G-C
gnomAD v3:
3-165829939-G-C
gnomAD v4:
3-165829939-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829939G>C , CM000665.2:g.165829939G>C | GRCh38 |
| NC_000003.11:g.165547727G>C , CM000665.1:g.165547727G>C | GRCh37 |
| NC_000003.10:g.167030421G>C | NCBI36 |
| NG_009031.1:g.12527C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1095C>G MANE Select | ENSP00000264381.3:p.Phe365Leu | |
| ENST00000264381.7:c.1095C>G | ENSP00000264381.3:p.Phe365Leu | |
| ENST00000479451.5:c.107+7375C>G | ENSP00000418325.1:n.107+7375C>G | |
| ENST00000482958.1:c.1095C>G | ENSP00000419804.1:p.Phe365Leu | |
| ENST00000488954.1:c.107+7375C>G | ENSP00000418504.1:n.107+7375C>G | |
| ENST00000497011.5:c.1095C>G | ENSP00000419505.1:p.Phe365Leu | |
| NM_000055.2:c.1095C>G | NP_000046.1:p.Phe365Leu | |
| XM_005247685.1:c.1218C>G | XP_005247742.1:p.Phe406Leu | |
| NM_000055.3:c.1095C>G | NP_000046.1:p.Phe365Leu | |
| NR_137635.1:n.159+7375C>G | ||
| NR_137636.1:n.1262C>G | ||
| NM_000055.4:c.1095C>G MANE Select | NP_000046.1:p.Phe365Leu | |
| NR_137635.2:n.110+7375C>G | ||
| NR_137636.2:n.1213C>G |