HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949492C>A , CM000666.2:g.99949492C>A | GRCh38 |
NC_000004.11:g.100870649C>A , CM000666.1:g.100870649C>A | GRCh37 |
NC_000004.10:g.101089672C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296417.6:c.82-106G>T MANE Select | ENSP00000296417.5:n.82-106G>T | |
ENST00000651623.1:c.82-106G>T | ENSP00000498935.1:n.82-106G>T | |
ENST00000296417.5:c.82-106G>T | ENSP00000296417.5:n.82-106G>T | |
ENST00000511203.1:n.808G>T | ||
ENST00000511319.5:n.607-106G>T | ||
ENST00000511348.1:n.437G>T | ||
ENST00000527366.1:n.166-113G>T | ||
ENST00000529158.5:n.131-106G>T | ||
NM_002106.3:c.82-106G>T | NP_002097.1:n.82-106G>T | |
NM_002106.4:c.82-106G>T MANE Select | NP_002097.1:n.82-106G>T |