Linked Data
dbSNP Id:
rs1648077731
gnomAD v4:
1-75749457-A-G
MyVariant Identifiers:
chr1:g.76215142A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749457A>G , CM000663.2:g.75749457A>G | GRCh38 |
| NC_000001.10:g.76215142A>G , CM000663.1:g.76215142A>G | GRCh37 |
| NC_000001.9:g.75987730A>G | NCBI36 |
| NG_007045.2:g.30100A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.747A>G MANE Select | ENSP00000359878.5:p.Gly249= | |
| ENST00000473018.3:n.2871A>G | ||
| ENST00000532207.6:n.1636A>G | ||
| ENST00000541113.6:c.747A>G | ENSP00000442324.2:p.Gly249= | |
| ENST00000679509.1:n.1709A>G | ||
| ENST00000679530.1:c.*515A>G | ENSP00000506454.1:n.*515A>G | |
| ENST00000679615.1:n.2762A>G | ||
| ENST00000679687.1:c.309A>G | ENSP00000506598.1:p.Gly103= | |
| ENST00000679704.1:c.*513A>G | ENSP00000505117.1:n.*513A>G | |
| ENST00000679709.1:c.*710A>G | ENSP00000506623.1:n.*710A>G | |
| ENST00000679976.1:c.*331A>G | ENSP00000505565.1:n.*331A>G | |
| ENST00000680166.1:n.4036A>G | ||
| ENST00000680517.1:c.*135A>G | ENSP00000505803.1:n.*135A>G | |
| ENST00000680582.1:n.1709A>G | ||
| ENST00000680613.1:c.*118A>G | ENSP00000506114.1:n.*118A>G | |
| ENST00000680662.1:c.*661A>G | ENSP00000505080.1:n.*661A>G | |
| ENST00000680691.1:c.*410A>G | ENSP00000506487.1:n.*410A>G | |
| ENST00000680694.1:c.*335A>G | ENSP00000505658.1:n.*335A>G | |
| ENST00000680743.1:c.*414A>G | ENSP00000505073.1:n.*414A>G | |
| ENST00000680749.1:c.*32A>G | ENSP00000505122.1:n.*32A>G | |
| ENST00000680798.1:c.*222A>G | ENSP00000505670.1:n.*222A>G | |
| ENST00000680805.1:c.709-994A>G | ENSP00000505447.1:n.709-994A>G | |
| ENST00000680844.1:c.*531A>G | ENSP00000506541.1:n.*531A>G | |
| ENST00000680948.1:c.*614A>G | ENSP00000505441.1:n.*614A>G | |
| ENST00000680964.1:c.747A>G | ENSP00000505961.1:p.Gly249= | |
| ENST00000681037.1:c.*2231A>G | ENSP00000506025.1:n.*2231A>G | |
| ENST00000681063.1:c.600-994A>G | ENSP00000506616.1:n.600-994A>G | |
| ENST00000681209.1:c.*402A>G | ENSP00000505877.1:n.*402A>G | |
| ENST00000681278.1:n.1104A>G | ||
| ENST00000681289.1:n.4742A>G | ||
| ENST00000681361.1:c.*414A>G | ENSP00000506679.1:n.*414A>G | |
| ENST00000681430.1:c.747A>G | ENSP00000506301.1:p.Gly249= | |
| ENST00000681446.1:c.*329A>G | ENSP00000506244.1:n.*329A>G | |
| ENST00000681450.1:c.*418A>G | ENSP00000505660.1:n.*418A>G | |
| ENST00000681548.1:c.*333A>G | ENSP00000505275.1:n.*333A>G | |
| ENST00000681616.1:c.*406A>G | ENSP00000505111.1:n.*406A>G | |
| ENST00000681621.1:c.*331A>G | ENSP00000505770.1:n.*331A>G | |
| ENST00000681680.1:n.2842A>G | ||
| ENST00000681720.1:c.*202A>G | ENSP00000505438.1:n.*202A>G | |
| ENST00000681730.1:n.969A>G | ||
| ENST00000681790.1:c.489A>G | ENSP00000505130.1:p.Gly163= | |
| ENST00000681837.1:n.1363A>G | ||
| ENST00000681913.1:n.2871A>G | ||
| ENST00000681916.1:c.*515A>G | ENSP00000506477.1:n.*515A>G | |
| ENST00000681930.1:n.2871A>G | ||
| ENST00000370834.9:c.846A>G | ENSP00000359871.5:p.Gly282= | |
| ENST00000370841.8:c.747A>G | ENSP00000359878.4:p.Gly249= | |
| ENST00000420607.6:c.759A>G | ENSP00000409612.2:p.Gly253= | |
| ENST00000525808.5:c.*333A>G | ENSP00000434823.1:n.*333A>G | |
| ENST00000526129.5:c.*531A>G | ENSP00000434092.1:n.*531A>G | |
| ENST00000526196.5:c.*515A>G | ENSP00000431953.1:n.*515A>G | |
| ENST00000526930.1:n.520A>G | ||
| ENST00000529059.5:n.656A>G | ||
| ENST00000530953.6:c.*244A>G | ENSP00000431372.1:n.*244A>G | |
| ENST00000532207.5:n.477A>G | ||
| ENST00000532509.5:c.*511A>G | ENSP00000432522.1:n.*511A>G | |
| ENST00000534334.5:c.*331A>G | ENSP00000435584.1:n.*331A>G | |
| ENST00000541113.5:c.639A>G | ENSP00000442324.1:p.Gly213= | |
| NM_000016.5:c.747A>G | NP_000007.1:p.Gly249= | |
| NM_001127328.2:c.759A>G | NP_001120800.1:p.Gly253= | |
| NM_001286042.1:c.639A>G | NP_001272971.1:p.Gly213= | |
| NM_001286043.1:c.846A>G | NP_001272972.1:p.Gly282= | |
| NM_001286044.1:c.180A>G | NP_001272973.1:p.Gly60= | |
| NM_000016.6:c.747A>G MANE Select | NP_000007.1:p.Gly249= | |
| NM_001127328.3:c.759A>G | NP_001120800.1:p.Gly253= | |
| NM_001286042.2:c.639A>G | NP_001272971.1:p.Gly213= | |
| NM_001286043.2:c.846A>G | NP_001272972.1:p.Gly282= | |
| NM_001286044.2:c.180A>G | NP_001272973.1:p.Gly60= |