HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48527457T>C , CM000685.2:g.48527457T>C | GRCh38 |
NC_000023.10:g.48385845T>C , CM000685.1:g.48385845T>C | GRCh37 |
NC_000023.9:g.48270789T>C | NCBI36 |
NG_007452.1:g.10682T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.469+172T>C MANE Select | ENSP00000417052.1:n.469+172T>C | |
ENST00000651615.1:c.469+172T>C | ENSP00000498524.1:n.469+172T>C | |
ENST00000276096.10:n.427+172T>C | ||
ENST00000446158.5:c.469+172T>C | ENSP00000390031.1:n.469+172T>C | |
ENST00000466461.1:n.480T>C | ||
ENST00000495186.5:c.469+172T>C | ENSP00000417052.1:n.469+172T>C | |
ENST00000498425.1:n.590+172T>C | ||
NM_006579.2:c.469+172T>C | NP_006570.1:n.469+172T>C | |
NM_006579.3:c.469+172T>C MANE Select | NP_006570.1:n.469+172T>C |