Linked Data
ClinVar Variation Id:
5691
ClinVar RCV Id:
RCV000006045
dbSNP Id:
rs267607224
gnomAD v4:
11-46894784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46894784C>T , CM000673.2:g.46894784C>T | GRCh38 |
| NC_000011.9:g.46916335C>T , CM000673.1:g.46916335C>T | GRCh37 |
| NC_000011.8:g.46872911C>T | NCBI36 |
| NG_021394.1:g.28839G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378623.6:c.1345G>A MANE Select | ENSP00000367888.1:p.Asp449Asn | |
| ENST00000378623.5:c.1345G>A | ENSP00000367888.1:p.Asp449Asn | |
| NM_002334.3:c.1345G>A | NP_002325.2:p.Asp449Asn | |
| XM_011520102.1:c.1558G>A | XP_011518404.1:p.Asp520Asn | |
| XM_011520103.1:c.541G>A | XP_011518405.1:p.Asp181Asn | |
| XM_011520103.2:c.541G>A | XP_011518405.1:p.Asp181Asn | |
| XM_017017734.1:c.1345G>A | XP_016873223.1:p.Asp449Asn | |
| NM_002334.4:c.1345G>A MANE Select | NP_002325.2:p.Asp449Asn |