HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159323100T>G , CM000667.2:g.159323100T>G | GRCh38 |
NC_000005.9:g.158750108T>G , CM000667.1:g.158750108T>G | GRCh37 |
NC_000005.8:g.158682686T>G | NCBI36 |
NG_009618.1:g.12374A>C , LRG_71:g.12374A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-148-2580A>C | ENSP00000512849.1:n.-148-2580A>C | |
ENST00000696751.1:c.318A>C | ENSP00000512850.1:p.Lys106Asn | |
ENST00000231228.3:c.318A>C MANE Select | ENSP00000231228.2:p.Lys106Asn | |
ENST00000231228.2:c.318A>C | ENSP00000231228.2:p.Lys106Asn | |
NM_002187.2:c.318A>C , LRG_71t1:c.318A>C | NP_002178.2:p.Lys106Asn | |
XR_001742945.1:n.148-2434T>G | ||
NM_002187.3:c.318A>C MANE Select | NP_002178.2:p.Lys106Asn |