Linked Data
dbSNP Id:
rs747496624
ExAC:
1:152283431 AC / A
gnomAD v2:
1-152283431-AC-A
gnomAD v4:
1-152310955-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310958del , CM000663.2:g.152310958del | GRCh38 |
| NC_000001.10:g.152283434del , CM000663.1:g.152283434del | GRCh37 |
| NC_000001.9:g.150550058del | NCBI36 |
| NG_016190.1:g.19248del , LRG_1028:g.19248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3930del MANE Select | ENSP00000357789.1:p.Phe1311SerfsTer? | |
| ENST00000368799.1:c.3930del | ENSP00000357789.1:p.Phe1311SerfsTer? | |
| NM_002016.1:c.3930del , LRG_1028t1:c.3930del | NP_002007.1:p.Phe1311SerfsTer? | |
| XM_011509329.1:c.3930del | XP_011507631.1:p.Phe1311SerfsTer? | |
| NM_002016.2:c.3930del MANE Select | NP_002007.1:p.Phe1311SerfsTer? |