HGVS | Genome Assembly |
---|---|
NC_000023.11:g.151181307C>G , CM000685.2:g.151181307C>G | GRCh38 |
NC_000023.10:g.150349779C>G , CM000685.1:g.150349779C>G | GRCh37 |
NC_000023.9:g.150100437C>G | NCBI36 |
NG_016405.1:g.9724C>G | |
NG_016405.2:g.9724C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000218316.4:c.1724C>G MANE Select | ENSP00000218316.3:p.Ala575Gly | |
ENST00000218316.3:c.1724C>G | ENSP00000218316.3:p.Ala575Gly | |
ENST00000617907.1:c.1718C>G | ENSP00000484496.1:p.Ala573Gly | |
NM_004224.3:c.1724C>G MANE Select | NP_004215.2:p.Ala575Gly | |
XM_011531216.1:c.983C>G | XP_011529518.1:p.Ala328Gly | |
XM_011531216.2:c.983C>G | XP_011529518.1:p.Ala328Gly |