HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65238398T>C , CM000674.2:g.65238398T>C | GRCh38 |
NC_000012.11:g.65632178T>C , CM000674.1:g.65632178T>C | GRCh37 |
NC_000012.10:g.63918445T>C | NCBI36 |
NG_016210.1:g.73828T>C | |
NG_016210.2:g.73828T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1696-104T>C MANE Select | ENSP00000308369.2:n.1696-104T>C | |
ENST00000308330.2:c.1696-104T>C | ENSP00000308369.2:n.1696-104T>C | |
NM_001167614.1:c.1693-104T>C | NP_001161086.1:n.1693-104T>C | |
NM_014319.4:c.1696-104T>C | NP_055134.2:n.1696-104T>C | |
NM_014319.5:c.1696-104T>C MANE Select | NP_055134.2:n.1696-104T>C | |
NM_001167614.2:c.1693-104T>C | NP_001161086.1:n.1693-104T>C |