HGVS | Genome Assembly |
---|---|
NC_000009.12:g.120939784C>T , CM000671.2:g.120939784C>T | GRCh38 |
NC_000009.11:g.123702062C>T , CM000671.1:g.123702062C>T | GRCh37 |
NC_000009.10:g.122741883C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696279.1:c.5899-5830G>A | ||
ENST00000696280.1:n.5668-5830G>A | ||
ENST00000696281.1:c.*548-5830G>A | ENSP00000512521.1:n.*548-5830G>A | |
ENST00000697921.1:n.4457-5830G>A | ||
ENST00000697922.1:c.*5569-5830G>A | ENSP00000513478.1:n.*5569-5830G>A |