Linked Data
ClinVar Variation Id:
14607
dbSNP Id:
rs59328451
ExAC:
17:39766801 T / A
gnomAD v2:
17-39766801-T-A
gnomAD v3:
17-41610549-T-A
gnomAD v4:
17-41610549-T-A
PubMed:
PMID:11359398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41610549T>A , CM000679.2:g.41610549T>A | GRCh38 |
| NC_000017.10:g.39766801T>A , CM000679.1:g.39766801T>A | GRCh37 |
| NC_000017.9:g.37020327T>A | NCBI36 |
| NG_008301.1:g.7279A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301653.9:c.1062A>T MANE Select | ENSP00000301653.3:p.Lys354Asn | |
| ENST00000301653.8:c.1062A>T | ENSP00000301653.3:p.Lys354Asn | |
| ENST00000593067.1:c.348A>T | ENSP00000467124.1:p.Lys116Asn | |
| NM_005557.3:c.1062A>T | NP_005548.2:p.Lys354Asn | |
| NM_005557.4:c.1062A>T MANE Select | NP_005548.2:p.Lys354Asn |