HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86579111T>G , CM000670.2:g.86579111T>G | GRCh38 |
NC_000008.10:g.87591339T>G , CM000670.1:g.87591339T>G | GRCh37 |
NC_000008.9:g.87660455T>G | NCBI36 |
NG_016980.1:g.169565A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.1923A>C MANE Select | ENSP00000316605.5:p.Lys641Asn | |
ENST00000681546.1:n.1743A>C | ||
ENST00000681746.1:c.*334A>C | ENSP00000505959.1:n.*334A>C | |
ENST00000320005.5:c.1923A>C | ENSP00000316605.5:p.Lys641Asn | |
ENST00000517327.5:c.96A>C | ENSP00000428329.1:p.Lys32Asn | |
NM_019098.4:c.1923A>C | NP_061971.3:p.Lys641Asn | |
XM_011517138.1:c.1509A>C | XP_011515440.1:p.Lys503Asn | |
XM_011517138.2:c.1509A>C | XP_011515440.1:p.Lys503Asn | |
NM_019098.5:c.1923A>C MANE Select | NP_061971.3:p.Lys641Asn |