Linked Data
ClinVar Variation Id:
218992
dbSNP Id:
rs864309736
gnomAD v3:
6-49457753-A-T
gnomAD v4:
6-49457753-A-T
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457753A>T , CM000668.2:g.49457753A>T | GRCh38 |
| NC_000006.11:g.49425466A>T , CM000668.1:g.49425466A>T | GRCh37 |
| NC_000006.10:g.49533425A>T | NCBI36 |
| NG_007100.1:g.10387T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.691T>A MANE Select | ENSP00000274813.3:p.Tyr231Asn | |
| ENST00000274813.3:c.691T>A | ENSP00000274813.3:p.Tyr231Asn | |
| NM_000255.3:c.691T>A | NP_000246.2:p.Tyr231Asn | |
| XM_005249143.2:c.691T>A | XP_005249200.1:p.Tyr231Asn | |
| XM_005249143.3:c.691T>A | XP_005249200.1:p.Tyr231Asn | |
| NM_000255.4:c.691T>A MANE Select | NP_000246.2:p.Tyr231Asn |