Linked Data
dbSNP Id:
rs1182846385
gnomAD v2:
17-48274427-G-GGA
gnomAD v3:
17-50197066-G-GGA
gnomAD v4:
17-50197066-G-GGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197073_50197074dup , CM000679.2:g.50197073_50197074dup | GRCh38 |
| NC_000017.10:g.48274434_48274435dup , CM000679.1:g.48274434_48274435dup | GRCh37 |
| NC_000017.9:g.45629433_45629434dup | NCBI36 |
| NG_007400.1:g.9572_9573dup , LRG_1:g.9572_9573dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.751-5_751-4dup MANE Select | ENSP00000225964.6:n.751-5_751-4dup | |
| ENST00000225964.9:c.751-5_751-4dup | ENSP00000225964.5:n.751-5_751-4dup | |
| ENST00000495677.1:n.478-5_478-4dup | ||
| NM_000088.3:c.751-5_751-4dup , LRG_1t1:c.751-5_751-4dup | NP_000079.2:n.751-5_751-4dup | |
| XM_005257058.3:c.751-5_751-4dup | XP_005257115.2:n.751-5_751-4dup | |
| XM_005257059.3:c.751-5_751-4dup | XP_005257116.2:n.751-5_751-4dup | |
| XM_011524341.1:c.751-5_751-4dup | XP_011522643.1:n.751-5_751-4dup | |
| XM_005257058.4:c.751-5_751-4dup | XP_005257115.2:n.751-5_751-4dup | |
| XM_005257059.4:c.751-5_751-4dup | XP_005257116.2:n.751-5_751-4dup | |
| NM_000088.4:c.751-5_751-4dup MANE Select | NP_000079.2:n.751-5_751-4dup |