HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721797T>G , CM000668.2:g.42721797T>G | GRCh38 |
NC_000006.11:g.42689535T>G , CM000668.1:g.42689535T>G | GRCh37 |
NC_000006.10:g.42797513T>G | NCBI36 |
NG_009176.1:g.5824A>C | |
NG_009176.2:g.5824A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.538A>C MANE Select | ENSP00000230381.5:p.Ile180Leu | |
ENST00000230381.6:c.538A>C | ENSP00000230381.5:p.Ile180Leu | |
NM_000322.4:c.538A>C | NP_000313.2:p.Ile180Leu | |
XR_427834.2:n.1193A>C | ||
XR_926295.1:n.1193A>C | ||
XR_427834.4:n.1243A>C | ||
XR_926295.3:n.1243A>C | ||
NM_000322.5:c.538A>C MANE Select | NP_000313.2:p.Ile180Leu |