HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045071T>C , CM000674.2:g.5045071T>C | GRCh38 |
NC_000012.11:g.5154237T>C , CM000674.1:g.5154237T>C | GRCh37 |
NC_000012.10:g.5024498T>C | NCBI36 |
NG_012198.1:g.6153T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.924T>C MANE Select | ENSP00000252321.3:p.Ser308= | |
ENST00000252321.4:c.924T>C | ENSP00000252321.3:p.Ser308= | |
NM_002234.3:c.924T>C | NP_002225.2:p.Ser308= | |
NM_002234.4:c.924T>C MANE Select | NP_002225.2:p.Ser308= |