Linked Data
dbSNP Id:
rs750242759
ExAC:
3:98304541 G / GA
gnomAD v2:
3-98304541-G-GA
gnomAD v4:
3-98585697-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585704dup , CM000665.2:g.98585704dup | GRCh38 |
| NC_000003.11:g.98304548dup , CM000665.1:g.98304548dup | GRCh37 |
| NC_000003.10:g.99787238dup | NCBI36 |
| NG_015994.1:g.12914dup | |
| NG_015994.2:g.12914dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.954-39dup MANE Select | ENSP00000497326.1:n.954-39dup | |
| ENST00000264193.2:c.954-39dup | ENSP00000264193.2:n.954-39dup | |
| ENST00000510489.1:n.165dup | ||
| NM_000097.5:c.954-39dup | NP_000088.3:n.954-39dup | |
| XM_005247125.3:c.954-39dup | XP_005247182.1:n.954-39dup | |
| NM_000097.7:c.954-39dup MANE Select | NP_000088.3:n.954-39dup | |
| XM_005247125.4:c.954-39dup | XP_005247182.1:n.954-39dup | |
| XR_001740025.2:n.1125-39dup | ||
| XR_001740026.1:n.1650dup | ||
| XR_001740027.1:n.1229-39dup | ||
| XR_001740028.1:n.1195-39dup |