Linked Data
dbSNP Id:
rs1008896344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12818270G>A , CM000686.2:g.12818270G>A | GRCh38 |
| NC_000024.9:g.14930205G>A , CM000686.1:g.14930205G>A | GRCh37 |
| NC_000024.8:g.13439599G>A | NCBI36 |
| NG_008311.1:g.122046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.4831-150G>A | ENSP00000498372.1:n.4831-150G>A | |
| ENST00000338981.7:c.4831-150G>A MANE Select | ENSP00000342812.3:n.4831-150G>A | |
| ENST00000426564.6:n.4843-150G>A | ||
| NM_004654.3:c.4831-150G>A | NP_004645.2:n.4831-150G>A | |
| XM_011531469.1:c.4831-150G>A | XP_011529771.1:n.4831-150G>A | |
| XM_011531470.1:c.4597-150G>A | XP_011529772.1:n.4597-150G>A | |
| XM_017030078.2:c.4846-150G>A | XP_016885567.1:n.4846-150G>A | |
| NM_004654.4:c.4831-150G>A MANE Select | NP_004645.2:n.4831-150G>A |