HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766187G>C , CM000674.2:g.57766187G>C | GRCh38 |
NC_000012.11:g.58159970G>C , CM000674.1:g.58159970G>C | GRCh37 |
NC_000012.10:g.56446237G>C | NCBI36 |
NG_007076.1:g.6007C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.118C>G | ||
ENST00000713544.1:c.206C>G | ENSP00000518840.1:p.Ala69Gly | |
ENST00000713545.1:c.206C>G | ENSP00000518841.1:p.Ala69Gly | |
ENST00000228606.9:c.206C>G MANE Select | ENSP00000228606.4:p.Ala69Gly | |
ENST00000228606.8:c.206C>G | ENSP00000228606.4:p.Ala69Gly | |
ENST00000546496.1:n.34C>G | ||
ENST00000546609.1:c.118C>G | ||
ENST00000547344.5:n.260C>G | ||
ENST00000552186.1:n.325C>G | ||
NM_000785.3:c.206C>G | NP_000776.1:p.Ala69Gly | |
NM_000785.4:c.206C>G MANE Select | NP_000776.1:p.Ala69Gly |