Linked Data
dbSNP Id:
rs1193303650
gnomAD v2:
12-72336501-C-T
gnomAD v3:
12-71942721-C-T
gnomAD v4:
12-71942721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71942721C>T , CM000674.2:g.71942721C>T | GRCh38 |
| NC_000012.11:g.72336501C>T , CM000674.1:g.72336501C>T | GRCh37 |
| NC_000012.10:g.70622768C>T | NCBI36 |
| NG_008279.1:g.8876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.255+988C>T MANE Select | ENSP00000329093.3:n.255+988C>T | |
| ENST00000333850.3:c.255+988C>T | ENSP00000329093.3:n.255+988C>T | |
| ENST00000546576.1:n.265+988C>T | ||
| NM_173353.3:c.255+988C>T | NP_775489.2:n.255+988C>T | |
| XR_245894.2:n.355+988C>T | ||
| XR_001748575.1:n.355+988C>T | ||
| NM_173353.4:c.255+988C>T MANE Select | NP_775489.2:n.255+988C>T |