HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993178A>C , CM000678.2:g.30993178A>C | GRCh38 |
NC_000016.9:g.31004499A>C , CM000678.1:g.31004499A>C | GRCh37 |
NC_000016.8:g.30912000A>C | NCBI36 |
NG_041829.1:g.22331T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.738T>G MANE Select | ENSP00000215095.5:p.Ala246= | |
ENST00000565419.2:c.738T>G | ENSP00000455899.1:p.Ala246= | |
ENST00000215095.9:c.738T>G | ENSP00000215095.5:p.Ala246= | |
ENST00000565419.1:c.738T>G | ENSP00000455899.1:p.Ala246= | |
ENST00000569638.5:c.486T>G | ENSP00000457067.1:p.Ala162= | |
NM_052874.4:c.738T>G | NP_443106.1:p.Ala246= | |
XM_017022893.1:c.720T>G | XP_016878382.1:p.Ala240= | |
NM_052874.5:c.738T>G MANE Select | NP_443106.1:p.Ala246= |