HGVS | Genome Assembly |
---|---|
NC_000009.12:g.120938466A>G , CM000671.2:g.120938466A>G | GRCh38 |
NC_000009.11:g.123700744A>G , CM000671.1:g.123700744A>G | GRCh37 |
NC_000009.10:g.122740565A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696279.1:c.5899-4512T>C | ||
ENST00000696280.1:n.5668-4512T>C | ||
ENST00000696281.1:c.*548-4512T>C | ENSP00000512521.1:n.*548-4512T>C | |
ENST00000697921.1:n.4457-4512T>C | ||
ENST00000697922.1:c.*5569-4512T>C | ENSP00000513478.1:n.*5569-4512T>C |