Linked Data
dbSNP Id:
rs1164613742
gnomAD v2:
2-141720970-A-AC
gnomAD v3:
2-140963401-A-AC
gnomAD v4:
2-140963401-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140963404dup , CM000664.2:g.140963404dup | GRCh38 |
| NC_000002.11:g.141720973dup , CM000664.1:g.141720973dup | GRCh37 |
| NC_000002.10:g.141437443dup | NCBI36 |
| NG_051023.1:g.1174062dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.2888-11462dup MANE Select | ENSP00000374135.3:n.2888-11462dup | |
| ENST00000389484.7:c.2888-11462dup | ENSP00000374135.3:n.2888-11462dup | |
| ENST00000434794.1:c.323-11462dup | ENSP00000413239.1:n.323-11462dup | |
| ENST00000618808.4:c.2546-11462dup | ENSP00000478868.1:n.2546-11462dup | |
| NM_018557.2:c.2888-11462dup | NP_061027.2:n.2888-11462dup | |
| XM_011511352.1:c.2999-11462dup | XP_011509654.1:n.2999-11462dup | |
| XM_017004341.1:c.2498-11462dup | XP_016859830.1:n.2498-11462dup | |
| XR_001738778.1:n.4622-11462dup | ||
| NM_018557.3:c.2888-11462dup MANE Select | NP_061027.2:n.2888-11462dup |