HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74824365G>C , CM000677.2:g.74824365G>C | GRCh38 |
NC_000015.9:g.75116706G>C , CM000677.1:g.75116706G>C | GRCh37 |
NC_000015.8:g.72903759G>C | NCBI36 |
NG_052659.1:g.16513G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309664.10:c.1338G>C MANE Select | ENSP00000310431.5:p.Lys446Asn | |
ENST00000309664.9:c.1338G>C | ENSP00000310431.5:p.Lys446Asn | |
ENST00000379709.7:c.1302G>C | ENSP00000369031.3:p.Lys434Asn | |
ENST00000565585.5:n.2400G>C | ||
ENST00000566046.1:n.178G>C | ||
ENST00000567848.1:c.243-1111G>C | ENSP00000454716.1:n.243-1111G>C | |
NM_021819.2:c.1338G>C | NP_068591.2:p.Lys446Asn | |
NM_021819.3:c.1338G>C MANE Select | NP_068591.2:p.Lys446Asn |