HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045163T>C , CM000674.2:g.5045163T>C | GRCh38 |
NC_000012.11:g.5154329T>C , CM000674.1:g.5154329T>C | GRCh37 |
NC_000012.10:g.5024590T>C | NCBI36 |
NG_012198.1:g.6245T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1016T>C MANE Select | ENSP00000252321.3:p.Leu339Pro | |
ENST00000252321.4:c.1016T>C | ENSP00000252321.3:p.Leu339Pro | |
NM_002234.3:c.1016T>C | NP_002225.2:p.Leu339Pro | |
NM_002234.4:c.1016T>C MANE Select | NP_002225.2:p.Leu339Pro |