HGVS | Genome Assembly |
---|---|
NC_000012.12:g.108250440G>C , CM000674.2:g.108250440G>C | GRCh38 |
NC_000012.11:g.108644217G>C , CM000674.1:g.108644217G>C | GRCh37 |
NC_000012.10:g.107168347G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000547525.6:c.*2097G>C MANE Select | ENSP00000448047.1:n.*2097G>C | |
ENST00000332082.8:c.*2097G>C | ENSP00000331933.4:n.*2097G>C | |
NM_001304447.1:c.*2097G>C | NP_001291376.1:n.*2097G>C | |
NM_014653.3:c.*2097G>C | NP_055468.2:n.*2097G>C | |
NM_014653.4:c.*2097G>C MANE Select | NP_055468.2:n.*2097G>C | |
NM_001304447.2:c.*2097G>C | NP_001291376.1:n.*2097G>C |