HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869254T>G , CM000664.2:g.240869254T>G | GRCh38 |
NC_000002.11:g.241808671T>G , CM000664.1:g.241808671T>G | GRCh37 |
NC_000002.10:g.241457344T>G | NCBI36 |
NG_008005.1:g.5510T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.250T>G MANE Select | ENSP00000302620.3:p.Cys84Gly | |
ENST00000307503.3:c.250T>G | ENSP00000302620.3:p.Cys84Gly | |
ENST00000472436.1:n.270T>G | ||
NM_000030.2:c.250T>G | NP_000021.1:p.Cys84Gly | |
XR_924060.1:n.405+979A>C | ||
NM_000030.3:c.250T>G MANE Select | NP_000021.1:p.Cys84Gly |