Linked Data
ClinVar Variation Id:
370083
dbSNP Id:
rs1057516219
gnomAD v2:
1-209799145-G-GC
gnomAD v3:
1-209625800-G-GC
gnomAD v4:
1-209625800-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209625801dup , CM000663.2:g.209625801dup | GRCh38 |
| NC_000001.10:g.209799146dup , CM000663.1:g.209799146dup | GRCh37 |
| NC_000001.9:g.207865769dup | NCBI36 |
| NG_007116.1:g.31675dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.1823dup MANE Select | ENSP00000348384.3:p.Ser608ArgfsTer23 | |
| ENST00000356082.8:c.1823dup | ENSP00000348384.3:p.Ser608ArgfsTer23 | |
| ENST00000367030.7:c.1823dup | ENSP00000355997.3:p.Ser608ArgfsTer23 | |
| ENST00000391911.5:c.1823dup | ENSP00000375778.1:p.Ser608ArgfsTer23 | |
| NM_000228.2:c.1823dup | NP_000219.2:p.Ser608ArgfsTer23 | |
| NM_001017402.1:c.1823dup | NP_001017402.1:p.Ser608ArgfsTer23 | |
| NM_001127641.1:c.1823dup | NP_001121113.1:p.Ser608ArgfsTer23 | |
| XM_005273124.3:c.1823dup | XP_005273181.1:p.Ser608ArgfsTer23 | |
| XM_005273124.4:c.1823dup | XP_005273181.1:p.Ser608ArgfsTer23 | |
| XM_017001272.2:c.1631dup | XP_016856761.1:p.Ser544ArgfsTer23 | |
| NM_000228.3:c.1823dup MANE Select | NP_000219.2:p.Ser608ArgfsTer23 | |
| NM_001017402.2:c.1823dup | NP_001017402.1:p.Ser608ArgfsTer23 |