HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91726703C>G , CM000671.2:g.91726703C>G | GRCh38 |
NC_000009.11:g.94488985C>G , CM000671.1:g.94488985C>G | GRCh37 |
NC_000009.10:g.93528806C>G | NCBI36 |
NG_008089.1:g.228460G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.1224G>C MANE Select | ENSP00000364860.3:p.Leu408Phe | |
ENST00000375708.3:c.1224G>C | ENSP00000364860.3:p.Leu408Phe | |
ENST00000375715.5:c.804G>C | ENSP00000364867.1:p.Leu268Phe | |
ENST00000550066.5:n.1692G>C | ||
NM_004560.3:c.1224G>C | NP_004551.2:p.Leu408Phe | |
XM_005252008.3:c.804G>C | XP_005252065.1:p.Leu268Phe | |
XM_005252009.3:c.21G>C | XP_005252066.1:p.Leu7Phe | |
XM_006717121.2:c.804G>C | XP_006717184.1:p.Leu268Phe | |
XM_011518721.1:c.804G>C | XP_011517023.1:p.Leu268Phe | |
NM_001318204.1:c.1190G>C | NP_001305133.1:p.Trp397Ser | |
XM_005252008.4:c.804G>C | XP_005252065.1:p.Leu268Phe | |
XM_006717121.3:c.804G>C | XP_006717184.1:p.Leu268Phe | |
XM_017014762.1:c.1215G>C | XP_016870251.1:p.Leu405Phe | |
XM_017014763.1:c.804G>C | XP_016870252.1:p.Leu268Phe | |
XR_001746315.1:n.1433G>C | ||
NM_004560.4:c.1224G>C MANE Select | NP_004551.2:p.Leu408Phe | |
NM_001318204.2:c.1190G>C | NP_001305133.1:p.Trp397Ser |