Linked Data
dbSNP Id:
rs754444224
ExAC:
4:88533218 T / A
gnomAD v2:
4-88533218-T-A
gnomAD v4:
4-87612066-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612066T>A , CM000666.2:g.87612066T>A | GRCh38 |
| NC_000004.11:g.88533218T>A , CM000666.1:g.88533218T>A | GRCh37 |
| NC_000004.10:g.88752242T>A | NCBI36 |
| NG_011595.1:g.8538T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.52-39T>A MANE Select | ENSP00000498766.1:n.52-39T>A | |
| ENST00000282478.7:c.52-39T>A | ENSP00000282478.7:n.52-39T>A | |
| ENST00000399271.5:c.52-39T>A | ENSP00000382213.1:n.52-39T>A | |
| NM_014208.3:c.52-39T>A MANE Select | NP_055023.2:n.52-39T>A |