HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48349022A>C , CM000675.2:g.48349022A>C | GRCh38 |
NC_000013.10:g.48923158A>C , CM000675.1:g.48923158A>C | GRCh37 |
NC_000013.9:g.47821159A>C | NCBI36 |
NG_009009.1:g.50276A>C , LRG_517:g.50276A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.606A>C MANE Select | ENSP00000267163.4:p.Lys202Asn | |
ENST00000650461.1:c.606A>C | ENSP00000497193.1:p.Lys202Asn | |
ENST00000267163.4:c.606A>C | ENSP00000267163.4:p.Lys202Asn | |
ENST00000467505.5:c.138-10995A>C | ENSP00000434702.1:n.138-10995A>C | |
ENST00000525036.1:n.768A>C | ||
NM_000321.2:c.606A>C , LRG_517t1:c.606A>C | NP_000312.2:p.Lys202Asn | |
XM_011535171.1:c.345A>C | XP_011533473.1:p.Lys115Asn | |
XM_011535171.2:c.345A>C | XP_011533473.1:p.Lys115Asn | |
NM_000321.3:c.606A>C MANE Select | NP_000312.2:p.Lys202Asn |