HGVS | Genome Assembly |
---|---|
NC_000003.12:g.30606973G>C , CM000665.2:g.30606973G>C | GRCh38 |
NC_000003.11:g.30648465G>C , CM000665.1:g.30648465G>C | GRCh37 |
NC_000003.10:g.30623469G>C | NCBI36 |
NG_007490.1:g.5472G>C , LRG_779:g.5472G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295754.10:c.90G>C MANE Select | ENSP00000295754.5:p.Lys30Asn | |
ENST00000295754.9:c.90G>C | ENSP00000295754.5:p.Lys30Asn | |
ENST00000359013.4:c.90G>C | ENSP00000351905.4:p.Lys30Asn | |
NM_001024847.2:c.90G>C , LRG_779t1:c.90G>C | NP_001020018.1:p.Lys30Asn | |
NM_003242.5:c.90G>C | NP_003233.4:p.Lys30Asn | |
XM_011534045.1:c.-12+380G>C | XP_011532347.1:n.-12+380G>C | |
XM_011534045.3:c.-12+380G>C | XP_011532347.1:n.-12+380G>C | |
NM_003242.6:c.90G>C MANE Select | NP_003233.4:p.Lys30Asn |