Linked Data
dbSNP Id:
rs782541492
ExAC:
X:154088664 A / AT
gnomAD v2:
X-154088664-A-AT
gnomAD v4:
X-154860389-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860397dup , CM000685.2:g.154860397dup | GRCh38 |
| NC_000023.10:g.154088672dup , CM000685.1:g.154088672dup | GRCh37 |
| NC_000023.9:g.153741866dup | NCBI36 |
| NG_011403.1:g.167334dup | |
| NG_011403.2:g.167334dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6900+42dup MANE Select | ENSP00000353393.4:n.6900+42dup | |
| ENST00000644698.1:c.633+42dup | ENSP00000495706.1:n.633+42dup | |
| ENST00000330287.10:c.495+42dup | ENSP00000327895.6:n.495+42dup | |
| ENST00000360256.8:c.6900+42dup | ENSP00000353393.4:n.6900+42dup | |
| NM_000132.3:c.6900+42dup | NP_000123.1:n.6900+42dup | |
| NM_019863.2:c.495+42dup | NP_063916.1:n.495+42dup | |
| XM_011531126.1:c.6795+42dup | XP_011529428.1:n.6795+42dup | |
| NM_000132.4:c.6900+42dup MANE Select | NP_000123.1:n.6900+42dup | |
| NM_019863.3:c.495+42dup | NP_063916.1:n.495+42dup |