Linked Data
dbSNP Id:
rs71653388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530169_7530188dup , CM000681.2:g.7530169_7530188dup | GRCh38 |
| NC_000019.9:g.7595055_7595074dup , CM000681.1:g.7595055_7595074dup | GRCh37 |
| NC_000019.8:g.7501055_7501074dup | NCBI36 |
| NG_013374.1:g.1018_1037dup | |
| NG_015806.1:g.12560_12579dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-117_1360-98dup MANE Select | ENSP00000264079.5:n.1360-117_1360-98dup | |
| ENST00000264079.10:c.1360-117_1360-98dup | ENSP00000264079.5:n.1360-117_1360-98dup | |
| ENST00000394321.9:n.1675-117_1675-98dup | ||
| ENST00000594692.1:n.356-117_356-98dup | ||
| ENST00000595860.5:n.543-117_543-98dup | ||
| ENST00000599334.1:c.237-266_237-247dup | ||
| NM_020533.2:c.1360-117_1360-98dup | NP_065394.1:n.1360-117_1360-98dup | |
| NM_020533.3:c.1360-117_1360-98dup MANE Select | NP_065394.1:n.1360-117_1360-98dup |