HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94850299G>T , CM000672.2:g.94850299G>T | GRCh38 |
NC_000010.10:g.96610056G>T , CM000672.1:g.96610056G>T | GRCh37 |
NC_000010.9:g.96600046G>T | NCBI36 |
NG_008384.2:g.92594G>T | |
NG_008384.3:g.92619G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.1291+241G>T MANE Select | ENSP00000360372.3:n.1291+241G>T | |
ENST00000645461.1:n.2202+241G>T | ||
ENST00000371321.7:c.1291+241G>T | ENSP00000360372.3:n.1291+241G>T | |
ENST00000464755.1:c.2054+241G>T | ENSP00000483243.1:n.2054+241G>T | |
NM_000769.2:c.1291+241G>T | NP_000760.1:n.1291+241G>T | |
NM_000769.4:c.1291+241G>T MANE Select | NP_000760.1:n.1291+241G>T |