Linked Data
dbSNP Id:
rs140935948
gnomAD v2:
6-33400261-A-ATG
gnomAD v3:
6-33432484-A-ATG
gnomAD v4:
6-33432484-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33432499_33432500dup , CM000668.2:g.33432499_33432500dup | GRCh38 |
| NC_000006.11:g.33400276_33400277dup , CM000668.1:g.33400276_33400277dup | GRCh37 |
| NC_000006.10:g.33508254_33508255dup | NCBI36 |
| NG_016137.1:g.17430_17431dup | |
| NG_016137.2:g.17430_17431dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.130-186_130-185dup | ENSP00000507403.1:n.130-186_130-185dup | |
| ENST00000418600.7:c.388-186_388-185dup | ENSP00000403636.3:n.388-186_388-185dup | |
| ENST00000449372.7:c.388-186_388-185dup | ENSP00000416519.4:n.388-186_388-185dup | |
| ENST00000629380.3:c.388-186_388-185dup | ENSP00000486463.1:n.388-186_388-185dup | |
| ENST00000638142.2:c.388-186_388-185dup | ENSP00000490803.1:n.388-186_388-185dup | |
| ENST00000644458.1:c.388-186_388-185dup | ENSP00000495541.1:n.388-186_388-185dup | |
| ENST00000645250.1:c.211-186_211-185dup | ENSP00000494861.1:n.211-186_211-185dup | |
| ENST00000646630.1:c.388-186_388-185dup MANE Select | ENSP00000496007.1:n.388-186_388-185dup | |
| ENST00000293748.9:c.343-186_343-185dup | ENSP00000293748.6:n.343-186_343-185dup | |
| ENST00000418600.6:c.388-186_388-185dup | ENSP00000403636.3:n.388-186_388-185dup | |
| ENST00000428982.4:c.211-186_211-185dup | ENSP00000412475.2:n.211-186_211-185dup | |
| ENST00000449372.6:c.388-186_388-185dup | ENSP00000416519.3:n.388-186_388-185dup | |
| ENST00000479510.2:n.583-186_583-185dup | ||
| ENST00000628646.2:c.388-186_388-185dup | ENSP00000486431.1:n.388-186_388-185dup | |
| ENST00000629380.2:c.388-186_388-185dup | ENSP00000486463.1:n.388-186_388-185dup | |
| NM_006772.2:c.388-186_388-185dup | NP_006763.2:n.388-186_388-185dup | |
| NM_001130066.1:c.388-186_388-185dup | NP_001123538.1:n.388-186_388-185dup | |
| NM_001130066.2:c.388-186_388-185dup | NP_001123538.1:n.388-186_388-185dup | |
| NM_006772.3:c.388-186_388-185dup MANE Select | NP_006763.2:n.388-186_388-185dup |