Linked Data
ClinVar Variation Id:
323105
ClinVar RCV Id:
RCV000268820
dbSNP Id:
rs886052908
gnomAD v2:
17-39661466-C-T
gnomAD v3:
17-41505214-C-T
gnomAD v4:
17-41505214-C-T
COSMIC:
COSM4066389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41505214C>T , CM000679.2:g.41505214C>T | GRCh38 |
| NC_000017.10:g.39661466C>T , CM000679.1:g.39661466C>T | GRCh37 |
| NC_000017.9:g.36914992C>T | NCBI36 |
| NG_008406.1:g.5400G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.337G>A MANE Select | ENSP00000246635.3:p.Asp113Asn | |
| ENST00000246635.7:c.337G>A | ENSP00000246635.3:p.Asp113Asn | |
| ENST00000336861.7:c.337G>A | ENSP00000336604.3:p.Asp113Asn | |
| ENST00000464634.2:c.126G>A | ENSP00000466525.1:p.Thr42= | |
| ENST00000468313.5:n.173G>A | ||
| ENST00000587435.1:c.337G>A | ENSP00000467833.1:p.Asp113Asn | |
| ENST00000587544.5:c.337G>A | ENSP00000468221.1:p.Asp113Asn | |
| ENST00000590425.1:c.16G>A | ENSP00000466465.1:p.Asp6Asn | |
| NM_002274.3:c.337G>A | NP_002265.2:p.Asp113Asn | |
| NM_153490.2:c.337G>A | NP_705694.2:p.Asp113Asn | |
| NM_153490.3:c.337G>A MANE Select | NP_705694.3:p.Asp113Asn | |
| NM_002274.4:c.337G>A | NP_002265.3:p.Asp113Asn |