Linked Data
gnomAD v4:
19-18785138-G-GCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785142_18785143dup , CM000681.2:g.18785142_18785143dup | GRCh38 |
| NC_000019.9:g.18895952_18895953dup , CM000681.1:g.18895952_18895953dup | GRCh37 |
| NC_000019.8:g.18756952_18756953dup | NCBI36 |
| NG_007070.1:g.11165_11166dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1718-48_1718-47dup MANE Select | ENSP00000222271.2:n.1718-48_1718-47dup | |
| ENST00000222271.6:c.1718-48_1718-47dup | ENSP00000222271.2:n.1718-48_1718-47dup | |
| ENST00000425807.1:c.1559-48_1559-47dup | ENSP00000403792.1:n.1559-48_1559-47dup | |
| ENST00000542601.6:c.1619-48_1619-47dup | ENSP00000439156.2:n.1619-48_1619-47dup | |
| NM_000095.2:c.1718-48_1718-47dup | NP_000086.2:n.1718-48_1718-47dup | |
| NM_000095.3:c.1718-48_1718-47dup MANE Select | NP_000086.2:n.1718-48_1718-47dup |