HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128305036C>G , CM000667.2:g.128305036C>G | GRCh38 |
NC_000005.9:g.127640728C>G , CM000667.1:g.127640728C>G | GRCh37 |
NC_000005.8:g.127668627C>G | NCBI36 |
NG_008750.1:g.238008G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2505G>C | ||
ENST00000703785.1:n.2424G>C | ||
ENST00000262464.9:c.5721G>C MANE Select | ENSP00000262464.4:p.Leu1907Phe | |
ENST00000262464.8:c.5721G>C | ENSP00000262464.4:p.Leu1907Phe | |
ENST00000508053.5:c.5721G>C | ENSP00000424571.1:p.Leu1907Phe | |
ENST00000619499.4:c.5718G>C | ENSP00000482132.1:p.Leu1906Phe | |
NM_001999.3:c.5721G>C | NP_001990.2:p.Leu1907Phe | |
XM_017009228.2:c.5568G>C | XP_016864717.1:p.Leu1856Phe | |
NM_001999.4:c.5721G>C MANE Select | NP_001990.2:p.Leu1907Phe |