HGVS | Genome Assembly |
---|---|
NC_000010.11:g.62631529G>A , CM000672.2:g.62631529G>A | GRCh38 |
NC_000010.10:g.64391289G>A , CM000672.1:g.64391289G>A | GRCh37 |
NC_000010.9:g.64061295G>A | NCBI36 |
NG_021209.1:g.262374G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647733.1:c.1129+8279G>A | ENSP00000502188.1:n.1129+8279G>A | |
ENST00000395251.5:c.-184-12213G>A | ENSP00000378672.1:n.-184-12213G>A | |
ENST00000410046.7:c.1129+8279G>A | ENSP00000387091.3:n.1129+8279G>A | |
NM_199451.2:c.1129+8279G>A | NP_955523.1:n.1129+8279G>A | |
NM_199452.3:c.-184-12213G>A | NP_955524.3:n.-184-12213G>A | |
XR_946002.1:n.82-6406C>T | ||
XR_946002.2:n.82-6406C>T | ||
NM_199451.3:c.1129+8279G>A | NP_955523.1:n.1129+8279G>A |