HGVS | Genome Assembly |
---|---|
NC_000020.11:g.44115722C>G , CM000682.2:g.44115722C>G | GRCh38 |
NC_000020.10:g.42744362C>G , CM000682.1:g.42744362C>G | GRCh37 |
NC_000020.9:g.42177776C>G | NCBI36 |
NG_031867.1:g.76857G>C , LRG_394:g.76857G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372980.4:c.1953G>C MANE Select | ENSP00000362071.3:p.Lys651Asn | |
ENST00000372980.3:c.1953G>C | ENSP00000362071.3:p.Lys651Asn | |
NM_020433.4:c.1953G>C , LRG_394t1:c.1953G>C | NP_065166.2:p.Lys651Asn | |
XM_006723832.2:c.1953G>C | XP_006723895.1:p.Lys651Asn | |
NM_020433.5:c.1953G>C MANE Select | NP_065166.2:p.Lys651Asn |