HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128849199G>C , CM000669.2:g.128849199G>C | GRCh38 |
NC_000007.13:g.128489253G>C , CM000669.1:g.128489253G>C | GRCh37 |
NC_000007.12:g.128276489G>C | NCBI36 |
NG_011807.1:g.23771G>C , LRG_870:g.23771G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.4946G>C MANE Select | ENSP00000327145.8:p.Gly1649Ala | |
ENST00000325888.12:c.4946G>C | ENSP00000327145.8:p.Gly1649Ala | |
ENST00000346177.6:c.4946G>C | ENSP00000344002.6:p.Gly1649Ala | |
NM_001127487.1:c.4946G>C | NP_001120959.1:p.Gly1649Ala | |
NM_001458.4:c.4946G>C , LRG_870t1:c.4946G>C | NP_001449.3:p.Gly1649Ala | |
NM_001127487.2:c.4946G>C | NP_001120959.1:p.Gly1649Ala | |
NM_001458.5:c.4946G>C MANE Select | NP_001449.3:p.Gly1649Ala |