Linked Data
dbSNP Id:
rs757737412
ExAC:
1:171621126 T / TC
gnomAD v2:
1-171621126-T-TC
gnomAD v3:
1-171651986-T-TC
gnomAD v4:
1-171651986-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171651992dup , CM000663.2:g.171651992dup | GRCh38 |
| NC_000001.10:g.171621132dup , CM000663.1:g.171621132dup | GRCh37 |
| NC_000001.9:g.169887755dup | NCBI36 |
| NG_008859.1:g.5647dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.604+21dup MANE Select | ENSP00000037502.5:n.604+21dup | |
| ENST00000638471.1:c.130+495dup | ENSP00000491206.1:n.130+495dup | |
| ENST00000037502.10:c.604+21dup | ENSP00000037502.5:n.604+21dup | |
| ENST00000614688.1:c.604+21dup | ENSP00000478680.1:n.604+21dup | |
| NM_000261.1:c.604+21dup | NP_000252.1:n.604+21dup | |
| NM_000261.2:c.604+21dup MANE Select | NP_000252.1:n.604+21dup |