HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957833G>C , CM000669.2:g.142957833G>C | GRCh38 |
NC_000007.13:g.142654920G>C , CM000669.1:g.142654920G>C | GRCh37 |
NC_000007.12:g.142365042G>C | NCBI36 |
NG_007492.1:g.9584C>G | |
NG_007492.2:g.9584C>G | |
NG_007492.3:g.9584C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.666C>G MANE Select | ENSP00000347409.2:p.Val222= | |
ENST00000467543.6:c.*518C>G | ENSP00000420011.2:n.*518C>G | |
ENST00000355265.6:c.666C>G | ENSP00000347409.2:p.Val222= | |
ENST00000467543.5:c.609C>G | ENSP00000420011.1:p.Val203= | |
ENST00000476829.5:c.525+471C>G | ENSP00000419889.1:n.525+471C>G | |
ENST00000479768.6:n.784C>G | ||
ENST00000494148.1:n.265C>G | ||
NM_000420.2:c.666C>G | NP_000411.1:p.Val222= | |
XM_005249993.2:c.702C>G | XP_005250050.1:p.Val234= | |
NM_000420.3:c.666C>G MANE Select | NP_000411.1:p.Val222= |