Linked Data
ClinVar Variation Id:
504486
ClinVar RCV Id:
RCV000598564
dbSNP Id:
rs1295123083
gnomAD v2:
19-47983598-C-CT
gnomAD v3:
19-47480341-C-CT
gnomAD v4:
19-47480341-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47480342dup , CM000681.2:g.47480342dup | GRCh38 |
| NC_000019.9:g.47983599dup , CM000681.1:g.47983599dup | GRCh37 |
| NC_000019.8:g.52675411dup | NCBI36 |
| NG_034097.1:g.8923dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338134.8:c.665dup MANE Select | ENSP00000337850.2:p.Ser223GlufsTer? | |
| ENST00000338134.7:c.665dup | ENSP00000337850.2:p.Ser223GlufsTer? | |
| ENST00000594208.5:c.*299dup | ENSP00000470364.1:n.*299dup | |
| ENST00000595554.1:c.497dup | ENSP00000469446.1:p.Ser167GlufsTer? | |
| ENST00000600271.5:c.-56dup | ENSP00000472291.1:n.-56dup | |
| NM_001291296.1:c.497dup | NP_001278225.1:p.Ser167GlufsTer? | |
| NM_007059.3:c.665dup | NP_008990.2:p.Ser223GlufsTer? | |
| NR_111923.1:n.856dup | ||
| XM_011526398.1:c.851dup | XP_011524700.1:p.Ser285GlufsTer? | |
| XM_011526399.1:c.851dup | XP_011524701.1:p.Ser285GlufsTer? | |
| XM_011526400.1:c.851dup | XP_011524702.1:p.Ser285GlufsTer? | |
| XM_011526401.1:c.683dup | XP_011524703.1:p.Ser229GlufsTer? | |
| XM_017026226.1:c.917dup | XP_016881715.1:p.Ser307GlufsTer? | |
| XM_017026227.1:c.917dup | XP_016881716.1:p.Ser307GlufsTer? | |
| XM_017026228.1:c.917dup | XP_016881717.1:p.Ser307GlufsTer? | |
| XM_024451333.1:c.665dup | XP_024307101.1:p.Ser223GlufsTer? | |
| XR_001753597.1:n.1119dup | ||
| NM_007059.4:c.665dup MANE Select | NP_008990.2:p.Ser223GlufsTer? | |
| NM_001291296.2:c.497dup | NP_001278225.1:p.Ser167GlufsTer? | |
| NR_111923.2:n.811dup |