Linked Data
dbSNP Id:
rs7079041
gnomAD v2:
10-32993268-G-A
gnomAD v3:
10-32704340-G-A
gnomAD v4:
10-32704340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.32704340G>A , CM000672.2:g.32704340G>A | GRCh38 |
| NC_000010.10:g.32993268G>A , CM000672.1:g.32993268G>A | GRCh37 |
| NC_000010.9:g.33033274G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375028.9:c.288-7280G>A | ||
| ENST00000639629.2:c.2459-7280G>A MANE Select | ENSP00000491655.1:n.2459-7280G>A | |
| ENST00000302316.12:c.378-7280G>A | ||
| ENST00000375025.10:c.853-7280G>A | ||
| ENST00000375028.8:c.288-7280G>A | ||
| ENST00000639290.1:n.1022-7280G>A | ||
| ENST00000639629.1:c.2459-7280G>A | ENSP00000491655.1:n.2459-7280G>A | |
| ENST00000302316.10:c.288-7280G>A | ||
| ENST00000375025.8:c.380-7280G>A | ENSP00000364165.5:n.380-7280G>A | |
| ENST00000375028.6:c.308-7280G>A | ENSP00000364168.3:n.308-7280G>A | |
| ENST00000375030.6:c.404-7280G>A | ENSP00000364170.2:n.404-7280G>A | |
| NM_024688.2:c.380-7280G>A | NP_078964.2:n.380-7280G>A | |
| XM_005252593.2:c.380-7280G>A | XP_005252650.1:n.380-7280G>A | |
| XM_006717504.1:c.2459-7280G>A | XP_006717567.1:n.2459-7280G>A | |
| XM_006717505.1:c.2246-7280G>A | XP_006717568.1:n.2246-7280G>A | |
| XM_006717506.1:c.2138-7280G>A | XP_006717569.1:n.2138-7280G>A | |
| XM_011519663.1:c.2459-7280G>A | XP_011517965.1:n.2459-7280G>A | |
| XM_011519664.1:c.2459-7280G>A | XP_011517966.1:n.2459-7280G>A | |
| XM_011519665.1:c.2438-7280G>A | XP_011517967.1:n.2438-7280G>A | |
| XM_011519666.1:c.2459-7280G>A | XP_011517968.1:n.2459-7280G>A | |
| XM_011519667.1:c.2459-7280G>A | XP_011517969.1:n.2459-7280G>A | |
| XM_011519668.1:c.2369-7280G>A | XP_011517970.1:n.2369-7280G>A | |
| XM_011519669.1:c.2357-7280G>A | XP_011517971.1:n.2357-7280G>A | |
| XM_011519670.1:c.2351-7280G>A | XP_011517972.1:n.2351-7280G>A | |
| XM_011519671.1:c.2459-7280G>A | XP_011517973.1:n.2459-7280G>A | |
| XM_011519672.1:c.2348-7280G>A | XP_011517974.1:n.2348-7280G>A | |
| XM_011519673.1:c.2345-7280G>A | XP_011517975.1:n.2345-7280G>A | |
| XM_011519674.1:c.2459-7280G>A | XP_011517976.1:n.2459-7280G>A | |
| XM_011519675.1:c.2249-7280G>A | XP_011517977.1:n.2249-7280G>A | |
| XM_011519676.1:c.2345-7280G>A | XP_011517978.1:n.2345-7280G>A | |
| XM_011519677.1:c.2237-7280G>A | XP_011517979.1:n.2237-7280G>A | |
| XM_011519678.1:c.2234-7280G>A | XP_011517980.1:n.2234-7280G>A | |
| XM_011519679.1:c.1928-7280G>A | XP_011517981.1:n.1928-7280G>A | |
| XM_011519680.1:c.1799-7280G>A | XP_011517982.1:n.1799-7280G>A | |
| XM_011519681.1:c.2459-7280G>A | XP_011517983.1:n.2459-7280G>A | |
| XM_011519682.1:c.1544-7280G>A | XP_011517984.1:n.1544-7280G>A | |
| XM_011519683.1:c.1538-7280G>A | XP_011517985.1:n.1538-7280G>A | |
| XM_011519684.1:c.2459-7280G>A | XP_011517986.1:n.2459-7280G>A | |
| XM_011519685.1:c.1376-7280G>A | XP_011517987.1:n.1376-7280G>A | |
| XM_011519686.1:c.2459-7280G>A | XP_011517988.1:n.2459-7280G>A | |
| XM_011519687.1:c.668-7280G>A | XP_011517989.1:n.668-7280G>A | |
| NM_001321115.1:c.2459-7280G>A | NP_001308044.1:n.2459-7280G>A | |
| XM_011519680.3:c.1799-7280G>A | XP_011517982.1:n.1799-7280G>A | |
| XM_011519683.2:c.1538-7280G>A | XP_011517985.1:n.1538-7280G>A | |
| XM_011519684.3:c.2459-7280G>A | XP_011517986.1:n.2459-7280G>A | |
| XM_011519686.2:c.2459-7280G>A | XP_011517988.1:n.2459-7280G>A | |
| XM_017016638.1:c.2459-7280G>A | XP_016872127.1:n.2459-7280G>A | |
| XM_017016639.1:c.2458+9348G>A | XP_016872128.1:n.2458+9348G>A | |
| XM_017016640.1:c.2459-7280G>A | XP_016872129.1:n.2459-7280G>A | |
| XM_017016641.1:c.1898-7280G>A | XP_016872130.1:n.1898-7280G>A | |
| XM_017016642.1:c.1799-7280G>A | XP_016872131.1:n.1799-7280G>A | |
| XM_017016643.1:c.1649-7280G>A | XP_016872132.1:n.1649-7280G>A | |
| XM_017016644.1:c.2459-7280G>A | XP_016872133.1:n.2459-7280G>A | |
| XM_017016646.1:c.1544-7280G>A | XP_016872135.1:n.1544-7280G>A | |
| XM_017016647.2:c.2459-7280G>A | XP_016872136.1:n.2459-7280G>A | |
| XM_017016648.1:c.1403-7280G>A | XP_016872137.1:n.1403-7280G>A | |
| XM_017016649.1:c.1178-7280G>A | XP_016872138.1:n.1178-7280G>A | |
| XM_017016652.1:c.701-7280G>A | XP_016872141.1:n.701-7280G>A | |
| XM_017016653.1:c.629-7280G>A | XP_016872142.1:n.629-7280G>A | |
| XM_024448165.1:c.2438-7280G>A | XP_024303933.1:n.2438-7280G>A | |
| XM_024448166.1:c.2426-7280G>A | XP_024303934.1:n.2426-7280G>A | |
| XM_024448167.1:c.1544-7280G>A | XP_024303935.1:n.1544-7280G>A | |
| XM_024448168.1:c.1544-7280G>A | XP_024303936.1:n.1544-7280G>A | |
| XM_024448169.1:c.491-7280G>A | XP_024303937.1:n.491-7280G>A | |
| XM_024448170.1:c.488-7280G>A | XP_024303938.1:n.488-7280G>A | |
| NM_001321115.2:c.2459-7280G>A | NP_001308044.1:n.2459-7280G>A | |
| NM_001395015.1:c.2459-7280G>A MANE Select | NP_001381944.1:n.2459-7280G>A | |
| NM_001395233.1:c.1174+18260G>A | NP_001382162.1:n.1174+18260G>A |