Linked Data
dbSNP Id:
rs2091765633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740940G>T , CM000685.2:g.153740940G>T | GRCh38 |
| NC_000023.10:g.153006394G>T , CM000685.1:g.153006394G>T | GRCh37 |
| NC_000023.9:g.152659588G>T | NCBI36 |
| NG_009022.2:g.21073G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+221G>T MANE Select | ENSP00000218104.3:n.1780+221G>T | |
| ENST00000218104.5:c.1780+221G>T | ENSP00000218104.3:n.1780+221G>T | |
| NM_000033.3:c.1780+221G>T | NP_000024.2:n.1780+221G>T | |
| XR_938507.1:n.2252+221G>T | ||
| XR_938507.2:n.2252+221G>T | ||
| NM_000033.4:c.1780+221G>T MANE Select | NP_000024.2:n.1780+221G>T |