HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73196638C= , CM000679.2:g.73196638C= | GRCh38 |
NC_000017.10:g.71192777C= , CM000679.1:g.71192777C= | GRCh37 |
NC_000017.9:g.68704372C= | NCBI36 |
NG_008971.1:g.8605C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.447C= MANE Select | ENSP00000299886.4:p.Leu149= | |
ENST00000299886.8:c.447C= | ENSP00000299886.4:p.Leu149= | |
ENST00000438720.7:c.445C= | ||
ENST00000582587.2:c.444C= | ||
ENST00000618996.4:c.447C= | ENSP00000479450.1:p.Leu149= | |
NM_018714.2:c.447C= | NP_061184.1:p.Leu149= | |
NM_018714.3:c.447C= MANE Select | NP_061184.1:p.Leu149= |