Linked Data
ClinVar Variation Id:
10312
ClinVar RCV Id:
RCV000011025
dbSNP Id:
rs387906462
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896093_154896094del , CM000685.2:g.154896093_154896094del | GRCh38 |
| NC_000023.10:g.154124368_154124369del , CM000685.1:g.154124368_154124369del | GRCh37 |
| NC_000023.9:g.153777562_153777563del | NCBI36 |
| NG_011403.1:g.131630_131631del | |
| NG_011403.2:g.131630_131631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6412_6413del MANE Select | ENSP00000353393.4:p.Ser2138HisfsTer22 | |
| ENST00000360256.8:c.6412_6413del | ENSP00000353393.4:p.Ser2138HisfsTer22 | |
| NM_000132.3:c.6412_6413del | NP_000123.1:p.Ser2138HisfsTer22 | |
| XM_011531126.1:c.6307_6308del | XP_011529428.1:p.Ser2103HisfsTer22 | |
| NM_000132.4:c.6412_6413del MANE Select | NP_000123.1:p.Ser2138HisfsTer22 |