HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73196645C= , CM000679.2:g.73196645C= | GRCh38 |
NC_000017.10:g.71192784C= , CM000679.1:g.71192784C= | GRCh37 |
NC_000017.9:g.68704379C= | NCBI36 |
NG_008971.1:g.8612C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.454C= MANE Select | ENSP00000299886.4:p.His152= | |
ENST00000299886.8:c.454C= | ENSP00000299886.4:p.His152= | |
ENST00000438720.7:c.452C= | ||
ENST00000582587.2:c.451C= | ||
ENST00000618996.4:c.454C= | ENSP00000479450.1:p.His152= | |
NM_018714.2:c.454C= | NP_061184.1:p.His152= | |
NM_018714.3:c.454C= MANE Select | NP_061184.1:p.His152= |