HGVS | Genome Assembly |
---|---|
NC_000017.11:g.74920219A>G , CM000679.2:g.74920219A>G | GRCh38 |
NC_000017.10:g.72916314A>G , CM000679.1:g.72916314A>G | GRCh37 |
NC_000017.9:g.70427909A>G | NCBI36 |
NG_007882.1:g.8038T>C | |
NG_033062.1:g.945A>G | |
NG_007882.2:g.8045T>C | |
NG_033062.2:g.945A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614341.5:c.617T>C MANE Select | ENSP00000480279.1:p.Leu206Pro | |
ENST00000579243.1:c.*216T>C | ENSP00000462568.1:n.*216T>C | |
ENST00000614341.4:c.617T>C | ENSP00000480279.1:p.Leu206Pro | |
NM_001282489.2:c.308T>C | NP_001269418.1:p.Leu103Pro | |
NM_173477.4:c.617T>C | NP_775748.2:p.Leu206Pro | |
XM_011524296.1:c.308T>C | XP_011522598.1:p.Leu103Pro | |
XM_011524296.2:c.308T>C | XP_011522598.1:p.Leu103Pro | |
NM_173477.5:c.617T>C MANE Select | NP_775748.2:p.Leu206Pro | |
NM_001282489.3:c.308T>C | NP_001269418.1:p.Leu103Pro |