Linked Data
dbSNP Id:
rs2314378
gnomAD v2:
6-161480132-A-G
gnomAD v3:
6-161059100-A-G
gnomAD v4:
6-161059100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161059100A>G , CM000668.2:g.161059100A>G | GRCh38 |
| NC_000006.11:g.161480132A>G , CM000668.1:g.161480132A>G | GRCh37 |
| NC_000006.10:g.161400122A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392142.9:c.1707+9121A>G MANE Select | ENSP00000375986.4:n.1707+9121A>G | |
| ENST00000348824.11:c.1707+9121A>G | ENSP00000297332.10:n.1707+9121A>G | |
| ENST00000366919.6:c.1707+9121A>G | ENSP00000355886.2:n.1707+9121A>G | |
| ENST00000366920.6:c.1707+9121A>G | ENSP00000355887.2:n.1707+9121A>G | |
| ENST00000392142.8:c.1707+9121A>G | ENSP00000375986.4:n.1707+9121A>G | |
| ENST00000490904.6:c.1708-8099A>G | ENSP00000446303.1:n.1708-8099A>G | |
| ENST00000542952.5:c.153-11508A>G | ENSP00000439377.1:n.153-11508A>G | |
| ENST00000544041.5:c.1707+9121A>G | ENSP00000445018.1:n.1707+9121A>G | |
| NM_001291958.1:c.-32-8099A>G | NP_001278887.1:n.-32-8099A>G | |
| NM_001301072.1:c.1707+9121A>G | NP_001288001.1:n.1707+9121A>G | |
| NM_005922.3:c.1707+9121A>G | NP_005913.2:n.1707+9121A>G | |
| NM_006724.3:c.1707+9121A>G | NP_006715.2:n.1707+9121A>G | |
| NR_120425.1:n.1912+9121A>G | ||
| XM_005266989.1:c.1707+9121A>G | XP_005267046.1:n.1707+9121A>G | |
| NM_001363582.1:c.1707+9121A>G | NP_001350511.1:n.1707+9121A>G | |
| XM_017010869.1:c.1434+9121A>G | XP_016866358.1:n.1434+9121A>G | |
| XR_001743422.2:n.1855+9121A>G | ||
| XR_002956284.1:n.1855+9121A>G | ||
| NM_005922.4:c.1707+9121A>G MANE Select | NP_005913.3:n.1707+9121A>G | |
| NM_001291958.2:c.-32-8099A>G | NP_001278887.1:n.-32-8099A>G | |
| NM_001301072.2:c.1707+9121A>G | NP_001288001.2:n.1707+9121A>G | |
| NM_001363582.2:c.1707+9121A>G | NP_001350511.2:n.1707+9121A>G | |
| NM_006724.4:c.1707+9121A>G | NP_006715.3:n.1707+9121A>G | |
| NR_120425.2:n.1870+9121A>G |