HGVS | Genome Assembly |
---|---|
NC_000009.12:g.132969648G>A , CM000671.2:g.132969648G>A | GRCh38 |
NC_000009.11:g.135845035G>A , CM000671.1:g.135845035G>A | GRCh37 |
NC_000009.10:g.134834856G>A | NCBI36 |
NG_034227.1:g.29104G>A , LRG_879:g.29104G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339463.7:c.-700-3077G>A | ENSP00000344782.3:n.-700-3077G>A | |
NM_004188.5:c.-700-3077G>A , LRG_879t1:c.-700-3077G>A | NP_004179.3:n.-700-3077G>A | |
NM_004188.6:c.-700-3077G>A | NP_004179.3:n.-700-3077G>A | |
NM_004188.8:c.-700-3077G>A | NP_004179.3:n.-700-3077G>A |