HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154993060G>C , CM000685.2:g.154993060G>C | GRCh38 |
NC_000023.10:g.154221335G>C , CM000685.1:g.154221335G>C | GRCh37 |
NC_000023.9:g.153874529G>C | NCBI36 |
NG_011403.1:g.34664C>G | |
NG_011403.2:g.34664C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.477C>G MANE Select | ENSP00000353393.4:p.Val159= | |
ENST00000647125.1:c.*263C>G | ENSP00000496062.1:n.*263C>G | |
ENST00000360256.8:c.477C>G | ENSP00000353393.4:p.Val159= | |
ENST00000423959.5:c.372C>G | ENSP00000409446.1:p.Val124= | |
ENST00000453950.1:c.459C>G | ENSP00000389153.1:p.Val153= | |
NM_000132.3:c.477C>G | NP_000123.1:p.Val159= | |
XM_011531126.1:c.372C>G | XP_011529428.1:p.Val124= | |
NM_000132.4:c.477C>G MANE Select | NP_000123.1:p.Val159= |