HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721894A>G , CM000668.2:g.42721894A>G | GRCh38 |
NC_000006.11:g.42689632A>G , CM000668.1:g.42689632A>G | GRCh37 |
NC_000006.10:g.42797610A>G | NCBI36 |
NG_009176.1:g.5727T>C | |
NG_009176.2:g.5727T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.441T>C MANE Select | ENSP00000230381.5:p.Pro147= | |
ENST00000230381.6:c.441T>C | ENSP00000230381.5:p.Pro147= | |
NM_000322.4:c.441T>C | NP_000313.2:p.Pro147= | |
XR_427834.2:n.1096T>C | ||
XR_926295.1:n.1096T>C | ||
XR_427834.4:n.1146T>C | ||
XR_926295.3:n.1146T>C | ||
NM_000322.5:c.441T>C MANE Select | NP_000313.2:p.Pro147= |