HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64751925G>C , CM000673.2:g.64751925G>C | GRCh38 |
NC_000011.9:g.64519397G>C , CM000673.1:g.64519397G>C | GRCh37 |
NC_000011.8:g.64275973G>C | NCBI36 |
NG_013018.1:g.13791C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000164139.4:c.1767C>G MANE Select | ENSP00000164139.3:p.Asn589Lys | |
ENST00000164139.3:c.1767C>G | ENSP00000164139.3:p.Asn589Lys | |
ENST00000377432.7:c.1503C>G | ENSP00000366650.3:p.Asn501Lys | |
ENST00000462303.1:n.91C>G | ||
NM_001164716.1:c.1503C>G | NP_001158188.1:p.Asn501Lys | |
NM_005609.2:c.1767C>G | NP_005600.1:p.Asn589Lys | |
NM_005609.3:c.1767C>G | NP_005600.1:p.Asn589Lys | |
NM_005609.4:c.1767C>G MANE Select | NP_005600.1:p.Asn589Lys |