HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300844A>G , CM000667.2:g.128300844A>G | GRCh38 |
NC_000005.9:g.127636536A>G , CM000667.1:g.127636536A>G | GRCh37 |
NC_000005.8:g.127664435A>G | NCBI36 |
NG_008750.1:g.242200T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2923T>C | ||
ENST00000703785.1:n.2842T>C | ||
ENST00000262464.9:c.6139T>C MANE Select | ENSP00000262464.4:p.Tyr2047His | |
ENST00000262464.8:c.6139T>C | ENSP00000262464.4:p.Tyr2047His | |
ENST00000508053.5:c.6139T>C | ENSP00000424571.1:p.Tyr2047His | |
ENST00000619499.4:c.6136T>C | ENSP00000482132.1:p.Tyr2046His | |
NM_001999.3:c.6139T>C | NP_001990.2:p.Tyr2047His | |
XM_017009228.2:c.5986T>C | XP_016864717.1:p.Tyr1996His | |
NM_001999.4:c.6139T>C MANE Select | NP_001990.2:p.Tyr2047His |