HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42142247C>T , CM000684.2:g.42142247C>T | GRCh38 |
NC_000022.10:g.42538257C>T , CM000684.1:g.42538257C>T | GRCh37 |
NC_000022.9:g.40868201C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651010.1:n.2621-203G>A | ||
ENST00000358097.8:c.668-203G>A | ENSP00000445124.1:n.668-203G>A | |
ENST00000433992.2:c.668-203G>A | ENSP00000439604.1:n.668-203G>A | |
ENST00000610593.4:n.753-203G>A | ||
ENST00000612115.1:c.667-203G>A | ENSP00000484065.1:n.667-203G>A | |
ENST00000614967.4:c.514-203G>A | ENSP00000481168.1:n.514-203G>A | |
NR_002570.3:n.779-203G>A | ||
NM_001348386.2:c.667-203G>A | NP_001335315.1:n.667-203G>A | |
NR_002570.5:n.687-203G>A | ||
NR_145674.2:n.687-203G>A | ||
NM_001348386.3:c.667-203G>A | NP_001335315.1:n.667-203G>A | |
NR_002570.6:n.687-203G>A | ||
NR_145674.3:n.687-203G>A |