HGVS | Genome Assembly |
---|---|
NC_000004.12:g.56964650C>T , CM000666.2:g.56964650C>T | GRCh38 |
NC_000004.11:g.57830816C>T , CM000666.1:g.57830816C>T | GRCh37 |
NC_000004.10:g.57525573C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264230.5:c.1765-124G>A (NOA1) MANE Select | ENSP00000264230.4:n.1765-124G>A | |
ENST00000640168.2:c.899-2006C>T (REST) | ENSP00000490969.1:n.899-2006C>T | |
ENST00000640343.2:c.983-2006C>T (REST) | ENSP00000492813.1:n.983-2006C>T | |
ENST00000264230.4:c.1765-124G>A (NOA1) | ENSP00000264230.4:n.1765-124G>A | |
NM_032313.2:c.1765-124G>A (NOA1) | NP_115689.1:n.1765-124G>A | |
NM_032313.3:c.1765-124G>A (NOA1) | NP_115689.1:n.1765-124G>A | |
NM_032313.4:c.1765-124G>A (NOA1) MANE Select | NP_115689.1:n.1765-124G>A |