HGVS | Genome Assembly |
---|---|
NC_000007.14:g.101215100T>C , CM000669.2:g.101215100T>C | GRCh38 |
NC_000007.13:g.100858381T>C , CM000669.1:g.100858381T>C | GRCh37 |
NC_000007.12:g.100645101T>C | NCBI36 |
NG_012148.1:g.7631A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000223127.8:c.668A>G MANE Select | ENSP00000223127.3:p.Asn223Ser | |
ENST00000223127.7:c.668A>G | ENSP00000223127.3:p.Asn223Ser | |
ENST00000421736.1:c.166A>G | ||
ENST00000424135.5:c.433A>G | ENSP00000404799.1:n.433A>G | |
ENST00000478082.5:n.705A>G | ||
NM_001084.4:c.668A>G | NP_001075.1:p.Asn223Ser | |
NM_001084.5:c.668A>G MANE Select | NP_001075.1:p.Asn223Ser |