MyVariant.info:
GRCh37
chr7:g.114282671C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114642616C>A , CM000669.2:g.114642616C>A | GRCh38 |
| NC_000007.13:g.114282671C>A , CM000669.1:g.114282671C>A | GRCh37 |
| NC_000007.12:g.114069907C>A | NCBI36 |
| NG_007491.2:g.561307C>A | |
| NG_007491.3:g.561307C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.1033C>A | ENSP00000385069.4:p.Arg345= | |
| ENST00000703612.1:c.973C>A | ENSP00000515396.1:p.Arg325= | |
| ENST00000703613.1:c.1033C>A | ENSP00000515397.1:p.Arg345= | |
| ENST00000703614.1:c.982C>A | ENSP00000515398.1:p.Arg328= | |
| ENST00000703616.1:c.1108C>A | ENSP00000515400.1:p.Arg370= | |
| ENST00000703617.1:c.706C>A | ENSP00000515401.1:p.Arg236= | |
| ENST00000703618.1:c.260C>A | ||
| ENST00000350908.9:c.982C>A MANE Select | ENSP00000265436.7:p.Arg328= | |
| ENST00000393489.8:c.*776C>A | ENSP00000377129.4:n.*776C>A | |
| ENST00000350908.8:c.982C>A | ENSP00000265436.7:p.Arg328= | |
| ENST00000360232.8:c.982C>A | ENSP00000353367.4:p.Arg328= | |
| ENST00000378237.7:c.982C>A | ENSP00000367482.3:p.Arg328= | |
| ENST00000390668.3:c.1054C>A | ENSP00000375084.3:p.Arg352= | |
| ENST00000393489.7:c.706C>A | ENSP00000377129.3:p.Arg236= | |
| ENST00000393491.7:c.706C>A | ENSP00000377130.3:p.Arg236= | |
| ENST00000393494.6:c.982C>A | ENSP00000377132.2:p.Arg328= | |
| ENST00000393498.6:c.919C>A | ENSP00000377135.2:p.Arg307= | |
| ENST00000403559.8:c.1033C>A | ENSP00000385069.4:p.Arg345= | |
| ENST00000408937.7:c.1057C>A | ENSP00000386200.3:p.Arg353= | |
| ENST00000412402.5:c.*902C>A | ENSP00000405470.1:n.*902C>A | |
| ENST00000441290.6:c.*827C>A | ENSP00000416825.1:n.*827C>A | |
| ENST00000634372.1:n.222-9587C>A | ||
| ENST00000634411.1:c.931C>A | ENSP00000489135.1:p.Arg311= | |
| ENST00000634623.1:c.922C>A | ENSP00000488944.1:p.Arg308= | |
| ENST00000635109.1:c.*779C>A | ENSP00000489457.1:n.*779C>A | |
| ENST00000635534.1:c.973C>A | ENSP00000489229.1:p.Arg325= | |
| ENST00000635563.1:c.522C>A | ||
| ENST00000635638.1:c.985C>A | ENSP00000489073.1:p.Arg329= | |
| NM_001172766.2:c.979C>A | NP_001166237.1:p.Arg327= | |
| NM_001172767.2:c.1057C>A | NP_001166238.1:p.Arg353= | |
| NM_014491.3:c.982C>A | NP_055306.1:p.Arg328= | |
| NM_148898.3:c.1057C>A | NP_683696.2:p.Arg353= | |
| NM_148899.3:c.982C>A | NP_683697.2:p.Arg328= | |
| NM_148900.3:c.1033C>A | NP_683698.2:p.Arg345= | |
| NR_033766.1:n.1569C>A | ||
| NR_033767.1:n.1414C>A | ||
| XM_011516706.1:c.1126C>A | XP_011515008.1:p.Arg376= | |
| XM_017012801.2:c.1057C>A | XP_016868290.1:p.Arg353= | |
| NM_014491.4:c.982C>A MANE Select | NP_055306.1:p.Arg328= | |
| NM_001172766.3:c.979C>A | NP_001166237.1:p.Arg327= | |
| NM_148898.4:c.1057C>A | NP_683696.2:p.Arg353= | |
| NR_033766.2:n.1552C>A | ||
| NR_033767.2:n.1596C>A | ||
| NM_148900.4:c.1033C>A | NP_683698.2:p.Arg345= |