HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993215T>A , CM000678.2:g.30993215T>A | GRCh38 |
NC_000016.9:g.31004536T>A , CM000678.1:g.31004536T>A | GRCh37 |
NC_000016.8:g.30912037T>A | NCBI36 |
NG_041829.1:g.22294A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.701A>T MANE Select | ENSP00000215095.5:p.Tyr234Phe | |
ENST00000565419.2:c.701A>T | ENSP00000455899.1:p.Tyr234Phe | |
ENST00000215095.9:c.701A>T | ENSP00000215095.5:p.Tyr234Phe | |
ENST00000565419.1:c.701A>T | ENSP00000455899.1:p.Tyr234Phe | |
ENST00000569638.5:c.449A>T | ENSP00000457067.1:p.Tyr150Phe | |
NM_052874.4:c.701A>T | NP_443106.1:p.Tyr234Phe | |
XM_017022893.1:c.683A>T | XP_016878382.1:p.Tyr228Phe | |
NM_052874.5:c.701A>T MANE Select | NP_443106.1:p.Tyr234Phe |