HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80675002G>C , CM000667.2:g.80675002G>C | GRCh38 |
NC_000005.9:g.79970821G>C , CM000667.1:g.79970821G>C | GRCh37 |
NC_000005.8:g.80006577G>C | NCBI36 |
NG_016607.1:g.25528G>C | |
NG_016607.2:g.25528G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1047G>C MANE Select | ENSP00000265081.6:p.Lys349Asn | |
ENST00000658259.1:c.879G>C | ENSP00000499617.1:p.Lys293Asn | |
ENST00000667069.1:c.1047G>C | ENSP00000499502.1:p.Lys349Asn | |
ENST00000670357.1:c.1047G>C | ENSP00000499791.1:p.Lys349Asn | |
ENST00000265081.6:c.1047G>C | ENSP00000265081.6:p.Lys349Asn | |
NM_002439.4:c.1047G>C | NP_002430.3:p.Lys349Asn | |
NM_002439.5:c.1047G>C MANE Select | NP_002430.3:p.Lys349Asn |