Linked Data
dbSNP Id:
rs10748185
gnomAD v2:
12-72335855-G-A
gnomAD v3:
12-71942075-G-A
gnomAD v4:
12-71942075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71942075G>A , CM000674.2:g.71942075G>A | GRCh38 |
| NC_000012.11:g.72335855G>A , CM000674.1:g.72335855G>A | GRCh37 |
| NC_000012.10:g.70622122G>A | NCBI36 |
| NG_008279.1:g.8230G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.255+342G>A MANE Select | ENSP00000329093.3:n.255+342G>A | |
| ENST00000333850.3:c.255+342G>A | ENSP00000329093.3:n.255+342G>A | |
| ENST00000546576.1:n.265+342G>A | ||
| NM_173353.3:c.255+342G>A | NP_775489.2:n.255+342G>A | |
| XR_245894.2:n.355+342G>A | ||
| XR_001748575.1:n.355+342G>A | ||
| NM_173353.4:c.255+342G>A MANE Select | NP_775489.2:n.255+342G>A |