HGVS | Genome Assembly |
---|---|
NC_000006.12:g.42721791T>G , CM000668.2:g.42721791T>G | GRCh38 |
NC_000006.11:g.42689529T>G , CM000668.1:g.42689529T>G | GRCh37 |
NC_000006.10:g.42797507T>G | NCBI36 |
NG_009176.1:g.5830A>C | |
NG_009176.2:g.5830A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000230381.7:c.544A>C MANE Select | ENSP00000230381.5:p.Asn182His | |
ENST00000230381.6:c.544A>C | ENSP00000230381.5:p.Asn182His | |
NM_000322.4:c.544A>C | NP_000313.2:p.Asn182His | |
XR_427834.2:n.1199A>C | ||
XR_926295.1:n.1199A>C | ||
XR_427834.4:n.1249A>C | ||
XR_926295.3:n.1249A>C | ||
NM_000322.5:c.544A>C MANE Select | NP_000313.2:p.Asn182His |