Linked Data
ClinVar Variation Id:
370418
ClinVar RCV Id:
RCV000412273
dbSNP Id:
rs1057516471
gnomAD v4:
1-99870406-A-AT
PubMed:
PMID:11977176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99870407dup , CM000663.2:g.99870407dup | GRCh38 |
| NC_000001.10:g.100335963dup , CM000663.1:g.100335963dup | GRCh37 |
| NC_000001.9:g.100108551dup | NCBI36 |
| NG_012865.1:g.25324dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.672dup MANE Select | ENSP00000355106.3:p.Ser225Ter | |
| ENST00000637337.1:n.883dup | ||
| ENST00000294724.8:c.672dup | ENSP00000294724.4:p.Ser225Ter | |
| ENST00000361302.7:c.624dup | ENSP00000354971.3:p.Ser209Ter | |
| ENST00000361522.4:c.621dup | ENSP00000354635.4:p.Ser208Ter | |
| ENST00000361915.7:c.672dup | ENSP00000355106.3:p.Ser225Ter | |
| ENST00000370161.6:c.624dup | ENSP00000359180.2:p.Ser209Ter | |
| ENST00000370163.7:c.672dup | ENSP00000359182.3:p.Ser225Ter | |
| ENST00000370165.7:c.672dup | ENSP00000359184.3:p.Ser225Ter | |
| NM_000028.2:c.672dup | NP_000019.2:p.Ser225Ter | |
| NM_000642.2:c.672dup | NP_000633.2:p.Ser225Ter | |
| NM_000643.2:c.672dup | NP_000634.2:p.Ser225Ter | |
| NM_000644.2:c.672dup | NP_000635.2:p.Ser225Ter | |
| NM_000645.2:c.621dup | NP_000636.2:p.Ser208Ter | |
| NM_000646.2:c.624dup | NP_000637.2:p.Ser209Ter | |
| XM_005270557.1:c.672dup | XP_005270614.1:p.Ser225Ter | |
| XM_005270557.2:c.672dup | XP_005270614.1:p.Ser225Ter | |
| NM_000642.3:c.672dup MANE Select | NP_000633.2:p.Ser225Ter |