Linked Data
dbSNP Id:
rs777881699
ExAC:
4:88533583 G / T
gnomAD v2:
4-88533583-G-T
gnomAD v4:
4-87612431-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612431G>T , CM000666.2:g.87612431G>T | GRCh38 |
| NC_000004.11:g.88533583G>T , CM000666.1:g.88533583G>T | GRCh37 |
| NC_000004.10:g.88752607G>T | NCBI36 |
| NG_011595.1:g.8903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.245G>T MANE Select | ENSP00000498766.1:p.Gly82Val | |
| ENST00000282478.7:c.245G>T | ENSP00000282478.7:p.Gly82Val | |
| ENST00000399271.5:c.245G>T | ENSP00000382213.1:p.Gly82Val | |
| NM_014208.3:c.245G>T MANE Select | NP_055023.2:p.Gly82Val |