Linked Data
MyVariant Identifiers:
chr22:g.19711900G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724377G>T , CM000684.2:g.19724377G>T | GRCh38 |
| NC_000022.10:g.19711900G>T , CM000684.1:g.19711900G>T | GRCh37 |
| NC_000022.9:g.18091900G>T | NCBI36 |
| NG_007974.1:g.5835G>T , LRG_478:g.5835G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.534G>T (GP1BB) MANE Select | ENSP00000383382.2:p.Leu178= | |
| ENST00000366425.3:c.534G>T (GP1BB) | ENSP00000383382.2:p.Leu178= | |
| ENST00000431044.5:c.*1619G>T (SEPTIN5) | ENSP00000399685.1:n.*1619G>T | |
| NM_000407.4:c.534G>T , LRG_478t1:c.534G>T (GP1BB) | NP_000398.1:p.Leu178= | |
| NR_037611.1:n.4274G>T | ||
| NR_037612.1:n.2778G>T | ||
| NM_000407.5:c.534G>T (GP1BB) MANE Select | NP_000398.1:p.Leu178= |