HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94417799G>C , CM000669.2:g.94417799G>C | GRCh38 |
NC_000007.13:g.94047111G>C , CM000669.1:g.94047111G>C | GRCh37 |
NC_000007.12:g.93885047G>C | NCBI36 |
NG_007405.1:g.28239G>C , LRG_2:g.28239G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1939G>C MANE Select | ENSP00000297268.6:p.Ala647Pro | |
ENST00000297268.10:c.1939G>C | ENSP00000297268.6:p.Ala647Pro | |
ENST00000461525.5:n.28G>C | ||
ENST00000473573.5:n.276G>C | ||
ENST00000497316.5:n.336G>C | ||
ENST00000620463.1:c.1933G>C | ENSP00000477719.1:p.Ala645Pro | |
NM_000089.3:c.1939G>C , LRG_2t1:c.1939G>C | NP_000080.2:p.Ala647Pro | |
NM_000089.4:c.1939G>C MANE Select | NP_000080.2:p.Ala647Pro |