HGVS | Genome Assembly |
---|---|
NC_000001.11:g.100214817C>G , CM000663.2:g.100214817C>G | GRCh38 |
NC_000001.10:g.100680373C>G , CM000663.1:g.100680373C>G | GRCh37 |
NC_000001.9:g.100452961C>G | NCBI36 |
NG_011852.2:g.40037G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000681617.1:c.939G>C | ENSP00000505544.1:p.Lys313Asn | |
ENST00000681780.1:c.396G>C | ENSP00000505780.1:p.Lys132Asn | |
ENST00000370131.3:c.939G>C | ENSP00000359150.3:p.Lys313Asn | |
ENST00000370132.8:c.939G>C MANE Select | ENSP00000359151.3:p.Lys313Asn | |
NM_001918.3:c.939G>C | NP_001909.3:p.Lys313Asn | |
XM_005270545.2:c.396G>C | XP_005270602.1:p.Lys132Asn | |
XM_005270546.2:c.396G>C | XP_005270603.1:p.Lys132Asn | |
XR_946560.1:n.959G>C | ||
XM_005270545.4:c.396G>C | XP_005270602.1:p.Lys132Asn | |
XM_017000468.2:c.396G>C | XP_016855957.1:p.Lys132Asn | |
XM_017000469.2:c.396G>C | XP_016855958.1:p.Lys132Asn | |
XR_946560.3:n.956G>C | ||
NM_001918.4:c.939G>C | NP_001909.3:p.Lys313Asn | |
NM_001918.5:c.939G>C MANE Select | NP_001909.4:p.Lys313Asn | |
NM_001399969.1:c.396G>C | NP_001386898.1:p.Lys132Asn | |
NM_001399972.1:c.396G>C | NP_001386901.1:p.Lys132Asn | |
NR_174363.1:n.771G>C | ||
NR_174364.1:n.953G>C | ||
NR_174365.1:n.736G>C | ||
NR_174366.1:n.953G>C |