Linked Data
ClinVar Variation Id:
2766686
ClinVar RCV Id:
RCV003580394
dbSNP Id:
rs760168008
ExAC:
1:169454867 G / C
gnomAD v2:
1-169454867-G-C
gnomAD v3:
1-169485629-G-C
gnomAD v4:
1-169485629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485629G>C , CM000663.2:g.169485629G>C | GRCh38 |
| NC_000001.10:g.169454867G>C , CM000663.1:g.169454867G>C | GRCh37 |
| NC_000001.9:g.167721491G>C | NCBI36 |
| NG_008255.1:g.5342C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.138C>G MANE Select | ENSP00000236137.5:p.Leu46= | |
| ENST00000646596.1:c.138C>G | ENSP00000494404.1:p.Leu46= | |
| ENST00000236137.9:c.138C>G | ENSP00000236137.5:p.Leu46= | |
| ENST00000367804.4:c.138C>G | ENSP00000356778.3:p.Leu46= | |
| NM_006996.2:c.138C>G | NP_008927.1:p.Leu46= | |
| XM_011509076.1:c.12+424C>G | XP_011507378.1:n.12+424C>G | |
| XM_011509077.1:c.138C>G | XP_011507379.1:p.Leu46= | |
| NM_001319667.1:c.138C>G | NP_001306596.1:p.Leu46= | |
| NM_006996.3:c.138C>G MANE Select | NP_008927.1:p.Leu46= |