Linked Data
ClinVar Variation Id:
3016848
ClinVar RCV Id:
RCV003878983
dbSNP Id:
rs775368569
ExAC:
1:162746028 A / G
gnomAD v2:
1-162746028-A-G
gnomAD v3:
1-162776238-A-G
gnomAD v4:
1-162776238-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162776238A>G , CM000663.2:g.162776238A>G | GRCh38 |
| NC_000001.10:g.162746028A>G , CM000663.1:g.162746028A>G | GRCh37 |
| NC_000001.9:g.161012652A>G | NCBI36 |
| NG_016290.1:g.148801A>G | |
| NG_016290.2:g.150026A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367921.8:c.2151A>G MANE Select | ENSP00000356898.3:p.Leu717= | |
| ENST00000446985.6:c.2151A>G | ENSP00000400309.2:p.Leu717= | |
| ENST00000367921.7:c.2151A>G | ENSP00000356898.3:p.Leu717= | |
| ENST00000367922.7:c.2151A>G | ENSP00000356899.2:p.Leu717= | |
| NM_001014796.1:c.2151A>G | NP_001014796.1:p.Leu717= | |
| NM_006182.2:c.2151A>G | NP_006173.2:p.Leu717= | |
| XM_006711344.2:c.2151A>G | XP_006711407.1:p.Leu717= | |
| XM_011509586.1:c.2151A>G | XP_011507888.1:p.Leu717= | |
| XM_011509587.1:c.2151A>G | XP_011507889.1:p.Leu717= | |
| NM_001014796.2:c.2151A>G | NP_001014796.1:p.Leu717= | |
| NM_001354982.1:c.2151A>G | NP_001341911.1:p.Leu717= | |
| NM_001354983.1:c.2151A>G | NP_001341912.1:p.Leu717= | |
| NM_006182.3:c.2151A>G | NP_006173.2:p.Leu717= | |
| XM_011509587.2:c.2151A>G | XP_011507889.1:p.Leu717= | |
| NM_006182.4:c.2151A>G MANE Select | NP_006173.2:p.Leu717= | |
| NM_001014796.3:c.2151A>G | NP_001014796.1:p.Leu717= | |
| NM_001354982.2:c.2151A>G | NP_001341911.1:p.Leu717= | |
| NM_001354983.2:c.2151A>G | NP_001341912.1:p.Leu717= |