HGVS | Genome Assembly |
---|---|
NC_000010.11:g.102835094A>G , CM000672.2:g.102835094A>G | GRCh38 |
NC_000010.10:g.104594851A>G , CM000672.1:g.104594851A>G | GRCh37 |
NC_000010.9:g.104584841A>G | NCBI36 |
NG_007955.1:g.7440T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369887.4:c.437-80T>C MANE Select | ENSP00000358903.3:n.437-80T>C | |
ENST00000638190.1:c.437-80T>C | ENSP00000492539.1:n.437-80T>C | |
ENST00000638272.1:c.298-1886T>C | ENSP00000491508.1:n.298-1886T>C | |
ENST00000638971.1:c.437-80T>C | ENSP00000492313.1:n.437-80T>C | |
ENST00000639393.1:c.437-80T>C | ENSP00000492651.1:n.437-80T>C | |
ENST00000640633.1:n.199-80T>C | ||
ENST00000369887.3:c.437-80T>C | ENSP00000358903.3:n.437-80T>C | |
ENST00000489268.1:n.691-80T>C | ||
NM_000102.3:c.437-80T>C | NP_000093.1:n.437-80T>C | |
NM_000102.4:c.437-80T>C MANE Select | NP_000093.1:n.437-80T>C |