Linked Data
ClinVar Variation Id:
130741
dbSNP Id:
rs3809872
ExAC:
17:1637302 A / G
gnomAD v2:
17-1637302-A-G
gnomAD v3:
17-1734008-A-G
gnomAD v4:
17-1734008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1734008A>G , CM000679.2:g.1734008A>G | GRCh38 |
| NC_000017.10:g.1637302A>G , CM000679.1:g.1637302A>G | GRCh37 |
| NC_000017.9:g.1584052A>G | NCBI36 |
| NG_032811.1:g.22486A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.4971A>G MANE Select | ENSP00000386609.1:p.Leu1657= | |
| ENST00000309182.9:c.1818A>G | ENSP00000312074.5:p.Leu606= | |
| ENST00000409644.5:c.4971A>G | ENSP00000386609.1:p.Leu1657= | |
| ENST00000419248.5:c.1290A>G | ENSP00000407845.1:p.Leu430= | |
| ENST00000437219.6:c.1362A>G | ENSP00000391074.2:p.Leu454= | |
| ENST00000446363.5:c.888A>G | ENSP00000401560.1:p.Leu296= | |
| ENST00000464528.5:n.2357A>G | ||
| NM_001163673.1:c.1362A>G | NP_001157145.1:p.Leu454= | |
| NM_001163809.1:c.4971A>G | NP_001157281.1:p.Leu1657= | |
| NM_001163811.1:c.1290A>G | NP_001157283.1:p.Leu430= | |
| NM_152348.3:c.1818A>G | NP_689561.2:p.Leu606= | |
| XM_005256454.2:c.4971A>G | XP_005256511.1:p.Leu1657= | |
| XM_011523651.1:c.1818A>G | XP_011521953.1:p.Leu606= | |
| XR_933973.1:n.5060A>G | ||
| XM_011523651.2:c.1818A>G | XP_011521953.1:p.Leu606= | |
| XM_017024184.1:c.4971A>G | XP_016879673.1:p.Leu1657= | |
| XR_001752427.1:n.5123A>G | ||
| XR_933973.2:n.5068A>G | ||
| NM_001163809.2:c.4971A>G MANE Select | NP_001157281.1:p.Leu1657= | |
| NM_001163811.2:c.1290A>G | NP_001157283.1:p.Leu430= | |
| NM_152348.4:c.1818A>G | NP_689561.2:p.Leu606= | |
| NM_001163673.2:c.1362A>G | NP_001157145.1:p.Leu454= |