HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983413T>C , CM000678.2:g.56983413T>C | GRCh38 |
NC_000016.9:g.57017325T>C , CM000678.1:g.57017325T>C | GRCh37 |
NC_000016.8:g.55574826T>C | NCBI36 |
NG_008952.1:g.26491T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1407+2T>C MANE Select | ENSP00000200676.3:n.1407+2T>C | |
ENST00000200676.7:c.1407+2T>C | ENSP00000200676.3:n.1407+2T>C | |
ENST00000379780.6:c.1227+2T>C | ENSP00000369106.2:n.1227+2T>C | |
ENST00000566128.1:c.1212+2T>C | ENSP00000456276.1:n.1212+2T>C | |
NM_000078.2:c.1407+2T>C | NP_000069.2:n.1407+2T>C | |
NM_001286085.1:c.1227+2T>C | NP_001273014.1:n.1227+2T>C | |
NM_000078.3:c.1407+2T>C MANE Select | NP_000069.2:n.1407+2T>C | |
NM_001286085.2:c.1227+2T>C | NP_001273014.1:n.1227+2T>C |