HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85540536T>C , CM000664.2:g.85540536T>C | GRCh38 |
NC_000002.11:g.85767659T>C , CM000664.1:g.85767659T>C | GRCh37 |
NC_000002.10:g.85621170T>C | NCBI36 |
NG_029183.1:g.6559T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306434.8:c.92-547T>C MANE Select | ENSP00000303147.3:n.92-547T>C | |
ENST00000306434.7:c.92-547T>C | ENSP00000303147.3:n.92-547T>C | |
ENST00000409017.1:c.-99+536T>C | ENSP00000386353.1:n.-99+536T>C | |
ENST00000465151.5:n.212-547T>C | ||
ENST00000469221.5:n.212-547T>C | ||
ENST00000481412.5:n.70-547T>C | ||
NM_005911.5:c.92-547T>C | NP_005902.1:n.92-547T>C | |
NM_005911.6:c.92-547T>C MANE Select | NP_005902.1:n.92-547T>C |