Linked Data
ClinVar Variation Id:
50931
dbSNP Id:
rs397507563
ExAC:
1:152283659 AC / A
gnomAD v2:
1-152283659-AC-A
gnomAD v3:
1-152311183-AC-A
gnomAD v4:
1-152311183-AC-A
PubMed:
PMID:17417636
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311186del , CM000663.2:g.152311186del | GRCh38 |
| NC_000001.10:g.152283662del , CM000663.1:g.152283662del | GRCh37 |
| NC_000001.9:g.150550286del | NCBI36 |
| NG_016190.1:g.19020del , LRG_1028:g.19020del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.3702del MANE Select | ENSP00000357789.1:p.Ser1235HisfsTer? | |
| ENST00000368799.1:c.3702del | ENSP00000357789.1:p.Ser1235HisfsTer? | |
| NM_002016.1:c.3702del , LRG_1028t1:c.3702del | NP_002007.1:p.Ser1235HisfsTer? | |
| XM_011509329.1:c.3702del | XP_011507631.1:p.Ser1235HisfsTer? | |
| NM_002016.2:c.3702del MANE Select | NP_002007.1:p.Ser1235HisfsTer? |