HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675669G>A , CM000663.2:g.215675669G>A | GRCh38 |
NC_000001.10:g.215849011G>A , CM000663.1:g.215849011G>A | GRCh37 |
NC_000001.9:g.213915634G>A | NCBI36 |
NG_009497.1:g.752728C>T | |
NG_009497.2:g.752780C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12295-53C>T MANE Select | ENSP00000305941.3:n.12295-53C>T | |
ENST00000674083.1:c.12295-53C>T | ENSP00000501296.1:n.12295-53C>T | |
ENST00000307340.7:c.12295-53C>T | ENSP00000305941.3:n.12295-53C>T | |
NM_206933.2:c.12295-53C>T | NP_996816.2:n.12295-53C>T | |
NM_206933.3:c.12295-53C>T | NP_996816.2:n.12295-53C>T | |
NM_206933.4:c.12295-53C>T MANE Select | NP_996816.3:n.12295-53C>T |