Linked Data
ClinVar Variation Id:
14538
dbSNP Id:
rs769399002
ExAC:
3:49159495 TG / T
gnomAD v2:
3-49159495-TG-T
gnomAD v3:
3-49122062-TG-T
gnomAD v4:
3-49122062-TG-T
PubMed:
PMID:19251977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122063del , CM000665.2:g.49122063del | GRCh38 |
| NC_000003.11:g.49159496del , CM000665.1:g.49159496del | GRCh37 |
| NC_000003.10:g.49134500del | NCBI36 |
| NG_008094.1:g.16104del | |
| NG_054716.1:g.3876del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.4804del MANE Select | ENSP00000307156.4:p.Gln1602ArgfsTer? | |
| ENST00000305544.8:c.4804del | ENSP00000307156.4:p.Gln1602ArgfsTer? | |
| ENST00000418109.5:c.4804del | ENSP00000388325.1:p.Gln1602ArgfsTer? | |
| ENST00000498377.1:n.459del | ||
| NM_002292.3:c.4804del | NP_002283.3:p.Gln1602ArgfsTer? | |
| XM_005265127.3:c.4804del | XP_005265184.1:p.Gln1602ArgfsTer? | |
| XM_005265127.4:c.4804del | XP_005265184.1:p.Gln1602ArgfsTer? | |
| NM_002292.4:c.4804del MANE Select | NP_002283.3:p.Gln1602ArgfsTer? |