HGVS | Genome Assembly |
---|---|
NC_000011.10:g.70206164T>C , CM000673.2:g.70206164T>C | GRCh38 |
NC_000011.9:g.70052270T>C , CM000673.1:g.70052270T>C | GRCh37 |
NC_000011.8:g.69729918T>C | NCBI36 |
NG_027966.1:g.8002T>C , LRG_228:g.8002T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301838.5:c.318T>C MANE Select | ENSP00000301838.5:p.Asp106= | |
ENST00000301838.4:c.318T>C | ENSP00000301838.4:p.Asp106= | |
NM_003824.3:c.318T>C , LRG_228t1:c.318T>C | NP_003815.1:p.Asp106= | |
NM_003824.4:c.318T>C MANE Select | NP_003815.1:p.Asp106= |