Linked Data
dbSNP Id:
rs1172098895
gnomAD v2:
19-4094631-C-CA
gnomAD v3:
19-4094633-C-CA
gnomAD v4:
19-4094633-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094634dup , CM000681.2:g.4094634dup | GRCh38 |
| NC_000019.9:g.4094632dup , CM000681.1:g.4094632dup | GRCh37 |
| NC_000019.8:g.4045632dup | NCBI36 |
| NG_007996.1:g.34495dup , LRG_750:g.34495dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1486-136dup | ||
| ENST00000688002.1:n.3198-136dup | ||
| ENST00000688751.1:n.183-136dup | ||
| ENST00000689792.1:n.951-136dup | ||
| ENST00000262948.10:c.1047-136dup MANE Select | ENSP00000262948.4:n.1047-136dup | |
| ENST00000262948.9:c.1047-136dup | ENSP00000262948.3:n.1047-136dup | |
| ENST00000394867.8:c.756-136dup | ENSP00000378336.1:n.756-136dup | |
| ENST00000597263.5:n.232-136dup | ||
| ENST00000599021.1:c.157-136dup | ||
| ENST00000600584.5:n.2360dup | ||
| ENST00000601786.5:n.1348-136dup | ||
| NM_030662.3:c.1047-136dup , LRG_750t1:c.1047-136dup | NP_109587.1:n.1047-136dup | |
| XM_006722799.2:c.768-136dup | XP_006722862.1:n.768-136dup | |
| XM_011528133.1:c.477-136dup | XP_011526435.1:n.477-136dup | |
| XM_017026989.1:c.1459dup | XP_016882478.1:p.Cys487LeufsTer? | |
| XM_017026990.1:c.1180dup | XP_016882479.1:p.Cys394LeufsTer? | |
| NM_030662.4:c.1047-136dup MANE Select | NP_109587.1:n.1047-136dup |