HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49451636T>G , CM000668.2:g.49451636T>G | GRCh38 |
NC_000006.11:g.49419349T>G , CM000668.1:g.49419349T>G | GRCh37 |
NC_000006.10:g.49527308T>G | NCBI36 |
NG_007100.1:g.16504A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.1162A>C MANE Select | ENSP00000274813.3:p.Asn388His | |
ENST00000274813.3:c.1162A>C | ENSP00000274813.3:p.Asn388His | |
NM_000255.3:c.1162A>C | NP_000246.2:p.Asn388His | |
XM_005249143.2:c.1162A>C | XP_005249200.1:p.Asn388His | |
XM_005249143.3:c.1162A>C | XP_005249200.1:p.Asn388His | |
NM_000255.4:c.1162A>C MANE Select | NP_000246.2:p.Asn388His |