HGVS | Genome Assembly |
---|---|
NC_000020.11:g.41043978T>C , CM000682.2:g.41043978T>C | GRCh38 |
NC_000020.10:g.39672618T>C , CM000682.1:g.39672618T>C | GRCh37 |
NC_000020.9:g.39106032T>C | NCBI36 |
NG_012262.1:g.20157T>C | |
NG_012262.2:g.20157T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361337.3:c.58+14523T>C MANE Select | ENSP00000354522.2:n.58+14523T>C | |
ENST00000681058.1:n.212+14523T>C | ||
ENST00000681113.1:c.58+14523T>C | ENSP00000505788.1:n.58+14523T>C | |
ENST00000361337.2:c.58+14523T>C | ENSP00000354522.2:n.58+14523T>C | |
NM_003286.2:c.58+14523T>C | NP_003277.1:n.58+14523T>C | |
NM_003286.3:c.58+14523T>C | NP_003277.1:n.58+14523T>C | |
NM_003286.4:c.58+14523T>C MANE Select | NP_003277.1:n.58+14523T>C |