HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160548706C>G , CM000668.2:g.160548706C>G | GRCh38 |
NC_000006.11:g.160969738C>G , CM000668.1:g.160969738C>G | GRCh37 |
NC_000006.10:g.160889728C>G | NCBI36 |
NG_016147.1:g.122670G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316300.10:c.4974-47G>C MANE Select | ENSP00000321334.6:n.4974-47G>C | |
ENST00000316300.9:c.4974-47G>C | ENSP00000321334.5:n.4974-47G>C | |
NM_005577.2:c.4974-47G>C | NP_005568.2:n.4974-47G>C | |
NM_005577.3:c.4974-47G>C | NP_005568.2:n.4974-47G>C | |
NM_005577.4:c.4974-47G>C MANE Select | NP_005568.2:n.4974-47G>C |