Linked Data
dbSNP Id:
rs1275299315
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94948974T>G , CM000672.2:g.94948974T>G | GRCh38 |
| NC_000010.10:g.96708731T>G , CM000672.1:g.96708731T>G | GRCh37 |
| NC_000010.9:g.96698721T>G | NCBI36 |
| NG_008385.1:g.15317T>G | |
| NG_008385.2:g.15817T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.643-134T>G MANE Select | ENSP00000260682.6:n.643-134T>G | |
| ENST00000643112.1:c.643-134T>G | ENSP00000496202.1:n.643-134T>G | |
| ENST00000260682.6:c.643-134T>G | ENSP00000260682.6:n.643-134T>G | |
| ENST00000473496.1:n.414-134T>G | ||
| NM_000771.3:c.643-134T>G | NP_000762.2:n.643-134T>G | |
| NM_000771.4:c.643-134T>G MANE Select | NP_000762.2:n.643-134T>G |