HGVS | Genome Assembly |
---|---|
NC_000003.12:g.119413876T>G , CM000665.2:g.119413876T>G | GRCh38 |
NC_000003.11:g.119132723T>G , CM000665.1:g.119132723T>G | GRCh37 |
NC_000003.10:g.120615413T>G | NCBI36 |
NG_007665.2:g.124504T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264245.9:c.1947T>G MANE Select | ENSP00000264245.4:p.Asn649Lys | |
ENST00000264245.8:c.1947T>G | ENSP00000264245.4:p.Asn649Lys | |
NM_020754.3:c.1947T>G | NP_065805.2:p.Asn649Lys | |
XM_005247671.3:c.1854T>G | XP_005247728.1:p.Asn618Lys | |
XM_006713714.2:c.1887T>G | XP_006713777.1:p.Asn629Lys | |
XM_006713714.3:c.1887T>G | XP_006713777.1:p.Asn629Lys | |
XM_017006955.1:c.1455T>G | XP_016862444.1:p.Asn485Lys | |
NM_020754.4:c.1947T>G MANE Select | NP_065805.2:p.Asn649Lys |