HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135856548G>A , CM000664.2:g.135856548G>A | GRCh38 |
NC_000002.11:g.136614118G>A , CM000664.1:g.136614118G>A | GRCh37 |
NC_000002.10:g.136330588G>A | NCBI36 |
NG_008104.2:g.3622C>T , LRG_338:g.3622C>T | |
NG_008958.1:g.24894C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264156.3:c.1626+180C>T MANE Select | ENSP00000264156.2:n.1626+180C>T | |
ENST00000264156.2:c.1626+180C>T | ENSP00000264156.2:n.1626+180C>T | |
ENST00000492091.1:n.182-4985C>T | ||
NM_005915.5:c.1626+180C>T | NP_005906.2:n.1626+180C>T | |
NM_005915.6:c.1626+180C>T MANE Select | NP_005906.2:n.1626+180C>T |