HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52809362A>G , CM000674.2:g.52809362A>G | GRCh38 |
NC_000012.11:g.53203146A>G , CM000674.1:g.53203146A>G | GRCh37 |
NC_000012.10:g.51489413A>G | NCBI36 |
NG_007380.1:g.10190T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000551956.2:c.834+21T>C MANE Select | ENSP00000448220.1:n.834+21T>C | |
ENST00000548097.5:c.*346+21T>C | ENSP00000449755.1:n.*346+21T>C | |
ENST00000549295.1:n.289T>C | ||
ENST00000551956.1:c.834+21T>C | ENSP00000448220.1:n.834+21T>C | |
NM_002272.3:c.834+21T>C | NP_002263.3:n.834+21T>C | |
NM_002272.4:c.834+21T>C MANE Select | NP_002263.3:n.834+21T>C |