Linked Data
ClinVar Variation Id:
167312
ClinVar RCV Id:
RCV000175567
dbSNP Id:
rs727504022
ExAC:
6:49426900 C / T
gnomAD v2:
6-49426900-C-T
gnomAD v4:
6-49459187-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459187C>T , CM000668.2:g.49459187C>T | GRCh38 |
| NC_000006.11:g.49426900C>T , CM000668.1:g.49426900C>T | GRCh37 |
| NC_000006.10:g.49534859C>T | NCBI36 |
| NG_007100.1:g.8953G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.280G>A MANE Select | ENSP00000274813.3:p.Gly94Arg | |
| ENST00000274813.3:c.280G>A | ENSP00000274813.3:p.Gly94Arg | |
| NM_000255.3:c.280G>A | NP_000246.2:p.Gly94Arg | |
| XM_005249143.2:c.280G>A | XP_005249200.1:p.Gly94Arg | |
| XM_005249143.3:c.280G>A | XP_005249200.1:p.Gly94Arg | |
| NM_000255.4:c.280G>A MANE Select | NP_000246.2:p.Gly94Arg |