HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983325G>C , CM000678.2:g.56983325G>C | GRCh38 |
NC_000016.9:g.57017237G>C , CM000678.1:g.57017237G>C | GRCh37 |
NC_000016.8:g.55574738G>C | NCBI36 |
NG_008952.1:g.26403G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000200676.8:c.1322-1G>C MANE Select | ENSP00000200676.3:n.1322-1G>C | |
ENST00000650358.1:n.1720-1G>C | ||
ENST00000200676.7:c.1322-1G>C | ENSP00000200676.3:n.1322-1G>C | |
ENST00000379780.6:c.1142-1G>C | ENSP00000369106.2:n.1142-1G>C | |
ENST00000566128.1:c.1127-1G>C | ENSP00000456276.1:n.1127-1G>C | |
NM_000078.2:c.1322-1G>C | NP_000069.2:n.1322-1G>C | |
NM_001286085.1:c.1142-1G>C | NP_001273014.1:n.1142-1G>C | |
NM_000078.3:c.1322-1G>C MANE Select | NP_000069.2:n.1322-1G>C | |
NM_001286085.2:c.1142-1G>C | NP_001273014.1:n.1142-1G>C |