HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575987C>G , CM000670.2:g.86575987C>G | GRCh38 |
NC_000008.10:g.87588215C>G , CM000670.1:g.87588215C>G | GRCh37 |
NC_000008.9:g.87657331C>G | NCBI36 |
NG_016980.1:g.172689G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.2247G>C MANE Select | ENSP00000316605.5:p.Lys749Asn | |
ENST00000681546.1:n.2067G>C | ||
ENST00000681746.1:c.*658G>C | ENSP00000505959.1:n.*658G>C | |
ENST00000320005.5:c.2247G>C | ENSP00000316605.5:p.Lys749Asn | |
ENST00000517327.5:c.276+2702G>C | ENSP00000428329.1:n.276+2702G>C | |
NM_019098.4:c.2247G>C | NP_061971.3:p.Lys749Asn | |
XM_011517138.1:c.1833G>C | XP_011515440.1:p.Lys611Asn | |
XM_011517138.2:c.1833G>C | XP_011515440.1:p.Lys611Asn | |
NM_019098.5:c.2247G>C MANE Select | NP_061971.3:p.Lys749Asn |