HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898670C>G , CM000679.2:g.4898670C>G | GRCh38 |
NC_000017.10:g.4801965C>G , CM000679.1:g.4801965C>G | GRCh37 |
NC_000017.9:g.4742744C>G | NCBI36 |
NG_008029.2:g.9406G>C | |
NG_028005.1:g.70331C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*66G>C MANE Select | ENSP00000497829.1:n.*66G>C | |
ENST00000649830.1:c.*184G>C | ENSP00000496907.1:n.*184G>C | |
ENST00000652550.1:n.1274G>C | ||
ENST00000293780.4:c.*66G>C | ENSP00000293780.4:n.*66G>C | |
ENST00000572438.1:n.1234G>C | ||
NM_000080.3:c.*66G>C | NP_000071.1:n.*66G>C | |
NM_000080.4:c.*66G>C MANE Select | NP_000071.1:n.*66G>C | |
XM_017024115.1:c.*66G>C | XP_016879604.1:n.*66G>C |