HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4899400G>C , CM000679.2:g.4899400G>C | GRCh38 |
NC_000017.10:g.4802695G>C , CM000679.1:g.4802695G>C | GRCh37 |
NC_000017.9:g.4743474G>C | NCBI36 |
NG_008029.2:g.8676C>G | |
NG_028005.1:g.71061G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1033-16C>G MANE Select | ENSP00000497829.1:n.1033-16C>G | |
ENST00000649830.1:c.100-16C>G | ENSP00000496907.1:n.100-16C>G | |
ENST00000652550.1:n.763-16C>G | ||
ENST00000293780.4:c.1033-16C>G | ENSP00000293780.4:n.1033-16C>G | |
ENST00000572438.1:n.719-16C>G | ||
NM_000080.3:c.1033-16C>G | NP_000071.1:n.1033-16C>G | |
NM_000080.4:c.1033-16C>G MANE Select | NP_000071.1:n.1033-16C>G | |
XM_017024115.1:c.997-16C>G | XP_016879604.1:n.997-16C>G | |
XR_001752421.1:n.1763-16C>G |