HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74919959C>G , CM000679.2:g.74919959C>G | GRCh38 |
NC_000017.10:g.72916054C>G , CM000679.1:g.72916054C>G | GRCh37 |
NC_000017.9:g.70427649C>G | NCBI36 |
NG_007882.1:g.8298G>C | |
NG_033062.1:g.685C>G | |
NG_007882.2:g.8305G>C | |
NG_033062.2:g.685C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.877G>C MANE Select | ENSP00000480279.1:p.Ala293Pro | |
ENST00000579243.1:c.*476G>C | ENSP00000462568.1:n.*476G>C | |
ENST00000614341.4:c.877G>C | ENSP00000480279.1:p.Ala293Pro | |
NM_001282489.2:c.568G>C | NP_001269418.1:p.Ala190Pro | |
NM_173477.4:c.877G>C | NP_775748.2:p.Ala293Pro | |
XM_011524296.1:c.568G>C | XP_011522598.1:p.Ala190Pro | |
XM_011524296.2:c.568G>C | XP_011522598.1:p.Ala190Pro | |
NM_173477.5:c.877G>C MANE Select | NP_775748.2:p.Ala293Pro | |
NM_001282489.3:c.568G>C | NP_001269418.1:p.Ala190Pro |