Linked Data
dbSNP Id:
rs2055558945
gnomAD v3:
17-75568789-T-G
gnomAD v4:
17-75568789-T-G
MyVariant Identifiers:
chr17:g.73564870T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75568789T>G , CM000679.2:g.75568789T>G | GRCh38 |
| NC_000017.10:g.73564870T>G , CM000679.1:g.73564870T>G | GRCh37 |
| NC_000017.9:g.71076465T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392550.8:c.1272T>G MANE Select | ENSP00000376333.4:p.Gly424= | |
| ENST00000167462.9:c.1272T>G | ENSP00000167462.5:p.Gly424= | |
| ENST00000392550.7:c.1272T>G | ENSP00000376333.3:p.Gly424= | |
| ENST00000545227.6:n.1449T>G | ||
| ENST00000577200.5:c.1272T>G | ENSP00000464397.1:p.Gly424= | |
| ENST00000577500.5:n.792T>G | ||
| ENST00000578638.5:c.263T>G | ||
| NM_001031803.1:c.1272T>G | NP_001026973.1:p.Gly424= | |
| NM_004524.2:c.1272T>G | NP_004515.2:p.Gly424= | |
| XM_006721897.2:c.1272T>G | XP_006721960.1:p.Gly424= | |
| XM_011524801.1:c.1272T>G | XP_011523103.1:p.Gly424= | |
| XM_011524802.1:c.1272T>G | XP_011523104.1:p.Gly424= | |
| XM_011524803.1:c.1272T>G | XP_011523105.1:p.Gly424= | |
| XM_011524804.1:c.1272T>G | XP_011523106.1:p.Gly424= | |
| XM_011524805.1:c.1272T>G | XP_011523107.1:p.Gly424= | |
| XM_011524806.1:c.1272T>G | XP_011523108.1:p.Gly424= | |
| XM_011524807.1:c.1074T>G | XP_011523109.1:p.Gly358= | |
| XM_017024625.1:c.1272T>G | XP_016880114.1:p.Gly424= | |
| XM_017024626.1:c.1272T>G | XP_016880115.1:p.Gly424= | |
| XM_017024627.1:c.1272T>G | XP_016880116.1:p.Gly424= | |
| XM_017024628.1:c.1272T>G | XP_016880117.1:p.Gly424= | |
| XM_017024629.1:c.1272T>G | XP_016880118.1:p.Gly424= | |
| XM_017024630.1:c.1272T>G | XP_016880119.1:p.Gly424= | |
| XM_017024631.1:c.1272T>G | XP_016880120.1:p.Gly424= | |
| XR_001752508.1:n.1397T>G | ||
| XR_002957999.1:n.1397T>G | ||
| XR_002958000.1:n.1464T>G | ||
| XR_002958001.1:n.1507T>G | ||
| XR_002958002.1:n.1436T>G | ||
| XR_002958003.1:n.1397T>G | ||
| XR_002958004.1:n.1515T>G | ||
| XR_002958005.1:n.1533T>G | ||
| NM_001031803.2:c.1272T>G MANE Select | NP_001026973.1:p.Gly424= | |
| NM_004524.3:c.1272T>G | NP_004515.2:p.Gly424= |