HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724053G>C , CM000684.2:g.19724053G>C | GRCh38 |
NC_000022.10:g.19711576G>C , CM000684.1:g.19711576G>C | GRCh37 |
NC_000022.9:g.18091576G>C | NCBI36 |
NG_007974.1:g.5511G>C , LRG_478:g.5511G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.210G>C (GP1BB) MANE Select | ENSP00000383382.2:p.Leu70= | |
ENST00000366425.3:c.210G>C (GP1BB) | ENSP00000383382.2:p.Leu70= | |
ENST00000431044.5:c.*1295G>C (SEPTIN5) | ENSP00000399685.1:n.*1295G>C | |
ENST00000455843.5:c.*1295G>C (SEPTIN5) | ENSP00000391731.1:n.*1295G>C | |
ENST00000470814.1:n.2182G>C (SEPTIN5) | ||
NM_000407.4:c.210G>C , LRG_478t1:c.210G>C (GP1BB) | NP_000398.1:p.Leu70= | |
NR_037611.1:n.3950G>C | ||
NR_037612.1:n.2454G>C | ||
NM_000407.5:c.210G>C (GP1BB) MANE Select | NP_000398.1:p.Leu70= |