Linked Data
dbSNP Id:
rs1284978512
gnomAD v2:
6-24306278-A-AAAG
gnomAD v3:
6-24306050-A-AAAG
gnomAD v4:
6-24306050-A-AAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24306053_24306055dup , CM000668.2:g.24306053_24306055dup | GRCh38 |
| NC_000006.11:g.24306281_24306283dup , CM000668.1:g.24306281_24306283dup | GRCh37 |
| NC_000006.10:g.24414260_24414262dup | NCBI36 |
| NG_012829.1:g.57000_57002dup | |
| NG_012829.2:g.82240_82242dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-4009_349-4007dup MANE Select | ENSP00000367715.3:n.349-4009_349-4007dup | |
| ENST00000378454.7:c.349-4009_349-4007dup | ENSP00000367715.3:n.349-4009_349-4007dup | |
| NM_001195610.1:c.349-4009_349-4007dup | NP_001182539.1:n.349-4009_349-4007dup | |
| NM_016356.4:c.349-4009_349-4007dup | NP_057440.2:n.349-4009_349-4007dup | |
| NM_016356.5:c.349-4009_349-4007dup MANE Select | NP_057440.2:n.349-4009_349-4007dup | |
| NM_001195610.2:c.349-4009_349-4007dup | NP_001182539.1:n.349-4009_349-4007dup |