Linked Data
ClinVar Variation Id:
222913
ClinVar RCV Id:
RCV000235227
dbSNP Id:
rs757000253
ExAC:
6:49425690 T / A
gnomAD v2:
6-49425690-T-A
gnomAD v4:
6-49457977-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457977T>A , CM000668.2:g.49457977T>A | GRCh38 |
| NC_000006.11:g.49425690T>A , CM000668.1:g.49425690T>A | GRCh37 |
| NC_000006.10:g.49533649T>A | NCBI36 |
| NG_007100.1:g.10163A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.467A>T MANE Select | ENSP00000274813.3:p.Asp156Val | |
| ENST00000274813.3:c.467A>T | ENSP00000274813.3:p.Asp156Val | |
| NM_000255.3:c.467A>T | NP_000246.2:p.Asp156Val | |
| XM_005249143.2:c.467A>T | XP_005249200.1:p.Asp156Val | |
| XM_005249143.3:c.467A>T | XP_005249200.1:p.Asp156Val | |
| NM_000255.4:c.467A>T MANE Select | NP_000246.2:p.Asp156Val |