Linked Data
ClinVar Variation Id:
1577786
ClinVar RCV Id:
RCV002081145
dbSNP Id:
rs1337545473
gnomAD v2:
1-76211518-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75745833A>G , CM000663.2:g.75745833A>G | GRCh38 |
| NC_000001.10:g.76211518A>G , CM000663.1:g.76211518A>G | GRCh37 |
| NC_000001.9:g.75984106A>G | NCBI36 |
| NG_007045.2:g.26476A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.627A>G MANE Select | ENSP00000359878.5:p.Pro209= | |
| ENST00000473018.3:n.2751A>G | ||
| ENST00000532207.6:n.1516A>G | ||
| ENST00000541113.6:c.627A>G | ENSP00000442324.2:p.Pro209= | |
| ENST00000679509.1:n.1589A>G | ||
| ENST00000679530.1:c.*395A>G | ENSP00000506454.1:n.*395A>G | |
| ENST00000679615.1:n.2724-3586A>G | ||
| ENST00000679687.1:c.189A>G | ENSP00000506598.1:p.Pro63= | |
| ENST00000679704.1:c.*393A>G | ENSP00000505117.1:n.*393A>G | |
| ENST00000679709.1:c.*590A>G | ENSP00000506623.1:n.*590A>G | |
| ENST00000679976.1:c.*211A>G | ENSP00000505565.1:n.*211A>G | |
| ENST00000680166.1:n.3916A>G | ||
| ENST00000680517.1:c.*97-3586A>G | ENSP00000505803.1:n.*97-3586A>G | |
| ENST00000680582.1:n.1589A>G | ||
| ENST00000680613.1:c.600-2A>G | ENSP00000506114.1:n.600-2A>G | |
| ENST00000680662.1:c.*541A>G | ENSP00000505080.1:n.*541A>G | |
| ENST00000680691.1:c.*290A>G | ENSP00000506487.1:n.*290A>G | |
| ENST00000680694.1:c.*215A>G | ENSP00000505658.1:n.*215A>G | |
| ENST00000680743.1:c.*294A>G | ENSP00000505073.1:n.*294A>G | |
| ENST00000680749.1:c.600-3586A>G | ENSP00000505122.1:n.600-3586A>G | |
| ENST00000680798.1:c.*184-3586A>G | ENSP00000505670.1:n.*184-3586A>G | |
| ENST00000680805.1:c.627A>G | ENSP00000505447.1:p.Pro209= | |
| ENST00000680844.1:c.*411A>G | ENSP00000506541.1:n.*411A>G | |
| ENST00000680948.1:c.*494A>G | ENSP00000505441.1:n.*494A>G | |
| ENST00000680964.1:c.627A>G | ENSP00000505961.1:p.Pro209= | |
| ENST00000681037.1:c.*2113-2A>G | ENSP00000506025.1:n.*2113-2A>G | |
| ENST00000681063.1:c.600-4618A>G | ENSP00000506616.1:n.600-4618A>G | |
| ENST00000681209.1:c.*364-3586A>G | ENSP00000505877.1:n.*364-3586A>G | |
| ENST00000681278.1:n.984A>G | ||
| ENST00000681289.1:n.4622A>G | ||
| ENST00000681361.1:c.*294A>G | ENSP00000506679.1:n.*294A>G | |
| ENST00000681430.1:c.627A>G | ENSP00000506301.1:p.Pro209= | |
| ENST00000681446.1:c.*209A>G | ENSP00000506244.1:n.*209A>G | |
| ENST00000681450.1:c.*298A>G | ENSP00000505660.1:n.*298A>G | |
| ENST00000681548.1:c.*213A>G | ENSP00000505275.1:n.*213A>G | |
| ENST00000681616.1:c.*368-3586A>G | ENSP00000505111.1:n.*368-3586A>G | |
| ENST00000681621.1:c.*211A>G | ENSP00000505770.1:n.*211A>G | |
| ENST00000681680.1:n.2724-2A>G | ||
| ENST00000681720.1:c.*82A>G | ENSP00000505438.1:n.*82A>G | |
| ENST00000681730.1:n.849A>G | ||
| ENST00000681790.1:c.369A>G | ENSP00000505130.1:p.Pro123= | |
| ENST00000681837.1:n.1243A>G | ||
| ENST00000681913.1:n.2751A>G | ||
| ENST00000681916.1:c.*395A>G | ENSP00000506477.1:n.*395A>G | |
| ENST00000681930.1:n.2751A>G | ||
| ENST00000370834.9:c.726A>G | ENSP00000359871.5:p.Pro242= | |
| ENST00000370841.8:c.627A>G | ENSP00000359878.4:p.Pro209= | |
| ENST00000420607.6:c.639A>G | ENSP00000409612.2:p.Pro213= | |
| ENST00000525808.5:c.*213A>G | ENSP00000434823.1:n.*213A>G | |
| ENST00000526129.5:c.*411A>G | ENSP00000434092.1:n.*411A>G | |
| ENST00000526196.5:c.*395A>G | ENSP00000431953.1:n.*395A>G | |
| ENST00000526930.1:n.400A>G | ||
| ENST00000529059.5:n.536A>G | ||
| ENST00000530953.6:c.*124A>G | ENSP00000431372.1:n.*124A>G | |
| ENST00000532207.5:n.357A>G | ||
| ENST00000532509.5:c.*391A>G | ENSP00000432522.1:n.*391A>G | |
| ENST00000534334.5:c.*211A>G | ENSP00000435584.1:n.*211A>G | |
| ENST00000541113.5:c.519A>G | ENSP00000442324.1:p.Pro173= | |
| NM_000016.5:c.627A>G | NP_000007.1:p.Pro209= | |
| NM_001127328.2:c.639A>G | NP_001120800.1:p.Pro213= | |
| NM_001286042.1:c.519A>G | NP_001272971.1:p.Pro173= | |
| NM_001286043.1:c.726A>G | NP_001272972.1:p.Pro242= | |
| NM_001286044.1:c.60A>G | NP_001272973.1:p.Pro20= | |
| NM_000016.6:c.627A>G MANE Select | NP_000007.1:p.Pro209= | |
| NM_001127328.3:c.639A>G | NP_001120800.1:p.Pro213= | |
| NM_001286042.2:c.519A>G | NP_001272971.1:p.Pro173= | |
| NM_001286043.2:c.726A>G | NP_001272972.1:p.Pro242= | |
| NM_001286044.2:c.60A>G | NP_001272973.1:p.Pro20= |