HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96292984A>G , CM000664.2:g.96292984A>G | GRCh38 |
NC_000002.11:g.96958722A>G , CM000664.1:g.96958722A>G | GRCh37 |
NC_000002.10:g.96322449A>G | NCBI36 |
NG_016973.1:g.17576T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323853.10:c.2148T>C MANE Select | ENSP00000317123.5:p.Ala716= | |
ENST00000652267.1:c.2148T>C | ENSP00000498933.1:p.Ala716= | |
ENST00000323853.9:c.2148T>C | ENSP00000317123.5:p.Ala716= | |
NM_014014.4:c.2148T>C | NP_054733.2:p.Ala716= | |
NM_014014.5:c.2148T>C MANE Select | NP_054733.2:p.Ala716= |