Linked Data
dbSNP Id:
rs1792193587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94422764T>A , CM000669.2:g.94422764T>A | GRCh38 |
| NC_000007.13:g.94052076T>A , CM000669.1:g.94052076T>A | GRCh37 |
| NC_000007.12:g.93890012T>A | NCBI36 |
| NG_007405.1:g.33204T>A , LRG_2:g.33204T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2404-193T>A MANE Select | ENSP00000297268.6:n.2404-193T>A | |
| ENST00000297268.10:c.2404-193T>A | ENSP00000297268.6:n.2404-193T>A | |
| ENST00000481570.5:n.294T>A | ||
| ENST00000497316.5:n.801-193T>A | ||
| ENST00000620463.1:c.2398-193T>A | ENSP00000477719.1:n.2398-193T>A | |
| NM_000089.3:c.2404-193T>A , LRG_2t1:c.2404-193T>A | NP_000080.2:n.2404-193T>A | |
| NM_000089.4:c.2404-193T>A MANE Select | NP_000080.2:n.2404-193T>A |