HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993163C>T , CM000678.2:g.30993163C>T | GRCh38 |
NC_000016.9:g.31004484C>T , CM000678.1:g.31004484C>T | GRCh37 |
NC_000016.8:g.30911985C>T | NCBI36 |
NG_041829.1:g.22346G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.753G>A MANE Select | ENSP00000215095.5:p.Lys251= | |
ENST00000565419.2:c.753G>A | ENSP00000455899.1:p.Lys251= | |
ENST00000215095.9:c.753G>A | ENSP00000215095.5:p.Lys251= | |
ENST00000565419.1:c.753G>A | ENSP00000455899.1:p.Lys251= | |
ENST00000569638.5:c.501G>A | ENSP00000457067.1:p.Lys167= | |
NM_052874.4:c.753G>A | NP_443106.1:p.Lys251= | |
XM_017022893.1:c.735G>A | XP_016878382.1:p.Lys245= | |
NM_052874.5:c.753G>A MANE Select | NP_443106.1:p.Lys251= |