HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94417802G>C , CM000669.2:g.94417802G>C | GRCh38 |
NC_000007.13:g.94047114G>C , CM000669.1:g.94047114G>C | GRCh37 |
NC_000007.12:g.93885050G>C | NCBI36 |
NG_007405.1:g.28242G>C , LRG_2:g.28242G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1942G>C MANE Select | ENSP00000297268.6:p.Ala648Pro | |
ENST00000297268.10:c.1942G>C | ENSP00000297268.6:p.Ala648Pro | |
ENST00000461525.5:n.31G>C | ||
ENST00000473573.5:n.279G>C | ||
ENST00000497316.5:n.339G>C | ||
ENST00000620463.1:c.1936G>C | ENSP00000477719.1:p.Ala646Pro | |
NM_000089.3:c.1942G>C , LRG_2t1:c.1942G>C | NP_000080.2:p.Ala648Pro | |
NM_000089.4:c.1942G>C MANE Select | NP_000080.2:p.Ala648Pro |