Linked Data
dbSNP Id:
rs765715370
ExAC:
1:40562961 GCC / G
gnomAD v2:
1-40562961-GCC-G
gnomAD v4:
1-40097289-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097291_40097292del , CM000663.2:g.40097291_40097292del | GRCh38 |
| NC_000001.10:g.40562963_40562964del , CM000663.1:g.40562963_40562964del | GRCh37 |
| NC_000001.9:g.40335550_40335551del | NCBI36 |
| NG_009192.1:g.5180_5181del , LRG_690:g.5180_5181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-53_-52del | ENSP00000394863.3:n.-53_-52del | |
| NM_000310.3:c.-53_-52del , LRG_690t1:c.-53_-52del | NP_000301.1:n.-53_-52del | |
| NM_001142604.1:c.-53_-52del | NP_001136076.1:n.-53_-52del | |
| NM_001363695.1:c.-53_-52del | NP_001350624.1:n.-53_-52del |