HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73323019A>G , CM000677.2:g.73323019A>G | GRCh38 |
NC_000015.9:g.73615360A>G , CM000677.1:g.73615360A>G | GRCh37 |
NC_000015.8:g.71402413A>G | NCBI36 |
NG_009063.1:g.51246T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3074T>C MANE Select | ENSP00000261917.3:p.Leu1025Pro | |
ENST00000261917.3:c.3074T>C | ENSP00000261917.3:p.Leu1025Pro | |
NM_005477.2:c.3074T>C | NP_005468.1:p.Leu1025Pro | |
XM_011521148.1:c.1856T>C | XP_011519450.1:p.Leu619Pro | |
XM_011521148.2:c.1856T>C | XP_011519450.1:p.Leu619Pro | |
NM_005477.3:c.3074T>C MANE Select | NP_005468.1:p.Leu1025Pro |