HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41756638T>A , CM000683.2:g.41756638T>A | GRCh38 |
NC_000021.8:g.43176798T>A , CM000683.1:g.43176798T>A | GRCh37 |
NC_000021.7:g.42049867T>A | NCBI36 |
NG_032113.1:g.15452A>T | |
NG_032113.2:g.15452A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332512.8:c.361A>T MANE Select | ENSP00000332454.3:p.Ile121Phe | |
ENST00000332512.7:c.361A>T | ENSP00000332454.3:p.Ile121Phe | |
ENST00000352483.3:c.361A>T | ENSP00000330161.2:p.Ile121Phe | |
NM_020639.2:c.361A>T | NP_065690.2:p.Ile121Phe | |
NM_020639.3:c.361A>T MANE Select | NP_065690.2:p.Ile121Phe |