Linked Data
ClinVar Variation Id:
218990
dbSNP Id:
rs753288303
ExAC:
6:49419231 C / T
gnomAD v2:
6-49419231-C-T
gnomAD v3:
6-49451518-C-T
gnomAD v4:
6-49451518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451518C>T , CM000668.2:g.49451518C>T | GRCh38 |
| NC_000006.11:g.49419231C>T , CM000668.1:g.49419231C>T | GRCh37 |
| NC_000006.10:g.49527190C>T | NCBI36 |
| NG_007100.1:g.16622G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.1280G>A MANE Select | ENSP00000274813.3:p.Gly427Asp | |
| ENST00000274813.3:c.1280G>A | ENSP00000274813.3:p.Gly427Asp | |
| NM_000255.3:c.1280G>A | NP_000246.2:p.Gly427Asp | |
| XM_005249143.2:c.1280G>A | XP_005249200.1:p.Gly427Asp | |
| XM_005249143.3:c.1280G>A | XP_005249200.1:p.Gly427Asp | |
| NM_000255.4:c.1280G>A MANE Select | NP_000246.2:p.Gly427Asp |