Linked Data
dbSNP Id:
rs902619439
gnomAD v2:
15-39873499-A-AG
gnomAD v3:
15-39581298-A-AG
gnomAD v4:
15-39581298-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39581299dup , CM000677.2:g.39581299dup | GRCh38 |
| NC_000015.9:g.39873500dup , CM000677.1:g.39873500dup | GRCh37 |
| NC_000015.8:g.37660792dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.-30+71dup MANE Select | ENSP00000260356.5:n.-30+71dup | |
| ENST00000260356.5:c.-30+71dup | ENSP00000260356.5:n.-30+71dup | |
| ENST00000397591.2:c.-151+71dup | ENSP00000380720.2:n.-151+71dup | |
| NM_003246.2:c.-30+71dup | NP_003237.2:n.-30+71dup | |
| NM_003246.3:c.-30+71dup | NP_003237.2:n.-30+71dup | |
| XM_011521970.1:c.-151+71dup | XP_011520272.1:n.-151+71dup | |
| XM_011521971.1:c.-30+71dup | XP_011520273.1:n.-30+71dup | |
| XR_931897.1:n.146+71dup | ||
| XM_011521971.2:c.-30+71dup | XP_011520273.1:n.-30+71dup | |
| NM_003246.4:c.-30+71dup MANE Select | NP_003237.2:n.-30+71dup |