Linked Data
ClinVar Variation Id:
2919900
ClinVar RCV Id:
RCV003604591
dbSNP Id:
rs765474106
ExAC:
8:61761675 A / G
gnomAD v2:
8-61761675-A-G
gnomAD v4:
8-60849116-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60849116A>G , CM000670.2:g.60849116A>G | GRCh38 |
| NC_000008.10:g.61761675A>G , CM000670.1:g.61761675A>G | GRCh37 |
| NC_000008.9:g.61924229A>G | NCBI36 |
| NG_007009.1:g.175337A>G , LRG_176:g.175337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.5366A>G | ENSP00000512218.1:p.Glu1789Gly | |
| ENST00000423902.7:c.5366A>G MANE Select | ENSP00000392028.1:p.Glu1789Gly | |
| ENST00000423902.6:c.5366A>G | ENSP00000392028.1:p.Glu1789Gly | |
| ENST00000524602.5:c.1717-13113A>G | ENSP00000437061.1:n.1717-13113A>G | |
| NM_001316690.1:c.1717-13113A>G | NP_001303619.1:n.1717-13113A>G | |
| NM_017780.3:c.5366A>G | NP_060250.2:p.Glu1789Gly | |
| XM_011517553.1:c.5456A>G | XP_011515855.1:p.Glu1819Gly | |
| XM_011517554.1:c.5456A>G | XP_011515856.1:p.Glu1819Gly | |
| XM_011517555.1:c.5456A>G | XP_011515857.1:p.Glu1819Gly | |
| XM_011517556.1:c.5456A>G | XP_011515858.1:p.Glu1819Gly | |
| XM_011517557.1:c.3443A>G | XP_011515859.1:p.Glu1148Gly | |
| XM_011517558.1:c.2993A>G | XP_011515860.1:p.Glu998Gly | |
| XM_011517559.1:c.2201A>G | XP_011515861.1:p.Glu734Gly | |
| XM_011517553.2:c.5456A>G | XP_011515855.1:p.Glu1819Gly | |
| XM_011517554.3:c.5456A>G | XP_011515856.1:p.Glu1819Gly | |
| XM_011517555.2:c.5456A>G | XP_011515857.1:p.Glu1819Gly | |
| XM_017013612.1:c.5456A>G | XP_016869101.1:p.Glu1819Gly | |
| XM_017013613.1:c.5366A>G | XP_016869102.1:p.Glu1789Gly | |
| NM_017780.4:c.5366A>G MANE Select | NP_060250.2:p.Glu1789Gly |