HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39666049G>T , CM000679.2:g.39666049G>T | GRCh38 |
NC_000017.10:g.37822302G>T , CM000679.1:g.37822302G>T | GRCh37 |
NC_000017.9:g.35075828G>T | NCBI36 |
NG_008892.1:g.5704G>T , LRG_210:g.5704G>T | |
NG_042278.1:g.3069G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.444G>T MANE Select | ENSP00000312624.2:p.Lys148Asn | |
ENST00000309889.2:c.444G>T | ENSP00000312624.2:p.Lys148Asn | |
ENST00000578283.1:c.372G>T | ENSP00000462787.1:p.Lys124Asn | |
NM_003673.3:c.444G>T , LRG_210t1:c.444G>T | NP_003664.1:p.Lys148Asn | |
NM_003673.4:c.444G>T MANE Select | NP_003664.1:p.Lys148Asn |