Linked Data
dbSNP Id:
rs1205168732
gnomAD v2:
12-72336725-T-G
gnomAD v3:
12-71942945-T-G
gnomAD v4:
12-71942945-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71942945T>G , CM000674.2:g.71942945T>G | GRCh38 |
| NC_000012.11:g.72336725T>G , CM000674.1:g.72336725T>G | GRCh37 |
| NC_000012.10:g.70622992T>G | NCBI36 |
| NG_008279.1:g.9100T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.255+1212T>G MANE Select | ENSP00000329093.3:n.255+1212T>G | |
| ENST00000333850.3:c.255+1212T>G | ENSP00000329093.3:n.255+1212T>G | |
| ENST00000546576.1:n.265+1212T>G | ||
| NM_173353.3:c.255+1212T>G | NP_775489.2:n.255+1212T>G | |
| XR_245894.2:n.355+1212T>G | ||
| XR_001748575.1:n.355+1212T>G | ||
| NM_173353.4:c.255+1212T>G MANE Select | NP_775489.2:n.255+1212T>G |