Linked Data
ClinVar Variation Id:
559521
ClinVar RCV Id:
RCV003768021
dbSNP Id:
rs121918844
gnomAD v3:
1-68444664-G-GA
gnomAD v4:
1-68444664-G-GA
ERepo:
CA23575009/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444671dup , CM000663.2:g.68444671dup | GRCh38 |
| NC_000001.10:g.68910354dup , CM000663.1:g.68910354dup | GRCh37 |
| NC_000001.9:g.68682942dup | NCBI36 |
| NG_008472.1:g.10295dup | |
| NG_008472.2:g.10295dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262340.6:c.361dup MANE Select | ENSP00000262340.5:p.Ser121PhefsTer10 | |
| ENST00000262340.5:c.361dup | ENSP00000262340.5:p.Ser121PhefsTer10 | |
| NM_000329.2:c.361dup | NP_000320.1:p.Ser121PhefsTer10 | |
| XM_017002027.1:c.85dup | XP_016857516.1:p.Ser29PhefsTer10 | |
| NM_000329.3:c.361dup MANE Select | NP_000320.1:p.Ser121PhefsTer10 |