HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333214T>G , CM000673.2:g.47333214T>G | GRCh38 |
NC_000011.9:g.47354765T>G , CM000673.1:g.47354765T>G | GRCh37 |
NC_000011.8:g.47311341T>G | NCBI36 |
NG_007667.1:g.24489A>C , LRG_386:g.24489A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.3310A>C MANE Select | ENSP00000442795.1:p.Lys1104Gln | |
ENST00000256993.8:c.3310A>C | ENSP00000256993.5:p.Lys1104Gln | |
ENST00000399249.6:c.3310A>C | ENSP00000382193.2:p.Lys1104Gln | |
ENST00000545968.5:c.3310A>C | ENSP00000442795.1:p.Lys1104Gln | |
NM_000256.3:c.3310A>C , LRG_386t1:c.3310A>C MANE Select | NP_000247.2:p.Lys1104Gln | |
XM_011520117.1:c.3292A>C | XP_011518419.1:p.Lys1098Gln | |
XM_011520118.1:c.3229A>C | XP_011518420.1:p.Lys1077Gln |