Linked Data
dbSNP Id:
rs1168397327
gnomAD v2:
8-144657163-T-TG
gnomAD v3:
8-143574993-T-TG
gnomAD v4:
8-143574993-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143574994dup , CM000670.2:g.143574994dup | GRCh38 |
| NC_000008.10:g.144657164dup , CM000670.1:g.144657164dup | GRCh37 |
| NC_000008.9:g.144728307dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1546dup MANE Select | ENSP00000401508.2:p.Gln516ProfsTer? | |
| ENST00000340490.7:c.1546dup | ENSP00000341136.3:p.Gln516ProfsTer? | |
| ENST00000426292.7:c.1507dup | ENSP00000390949.3:p.Gln503ProfsTer? | |
| ENST00000435154.7:c.*170dup | ENSP00000405670.3:n.*170dup | |
| ENST00000449291.6:c.1546dup | ENSP00000401508.2:p.Gln516ProfsTer? | |
| ENST00000460623.5:c.485dup | ||
| ENST00000464332.5:n.1090dup | ||
| ENST00000498076.5:n.325dup | ||
| ENST00000529179.1:n.330dup | ||
| NM_001286829.1:c.1507dup | NP_001273758.1:p.Gln503ProfsTer? | |
| NM_145201.5:c.1546dup | NP_660202.3:p.Gln516ProfsTer? | |
| XM_011517377.1:c.1292-94dup | XP_011515679.1:n.1292-94dup | |
| NM_001363145.1:c.1465dup | NP_001350074.1:p.Gln489ProfsTer? | |
| NM_001363146.1:c.862dup | NP_001350075.1:p.Gln288ProfsTer? | |
| XM_017013975.2:c.1765dup | XP_016869464.1:p.Gln589ProfsTer? | |
| XM_017013976.2:c.1765dup | XP_016869465.1:p.Gln589ProfsTer? | |
| XM_017013977.2:c.1465dup | XP_016869466.1:p.Gln489ProfsTer? | |
| XM_017013978.2:c.1511-94dup | XP_016869467.1:n.1511-94dup | |
| XM_017013979.2:c.862dup | XP_016869468.1:p.Gln288ProfsTer? | |
| XM_024447332.1:c.929-94dup | XP_024303100.1:n.929-94dup | |
| XM_024447333.1:c.781dup | XP_024303101.1:p.Gln261ProfsTer? | |
| NM_145201.6:c.1546dup MANE Select | NP_660202.3:p.Gln516ProfsTer? | |
| NM_001286829.2:c.1507dup | NP_001273758.1:p.Gln503ProfsTer? |