Linked Data
dbSNP Id:
rs2102951547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652496_171652497insGG , CM000663.2:g.171652496_171652497insGG | GRCh38 |
| NC_000001.10:g.171621636_171621637insGG , CM000663.1:g.171621636_171621637insGG | GRCh37 |
| NC_000001.9:g.169888259_169888260insGG | NCBI36 |
| NG_008859.1:g.5137_5138insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.115_116insCC MANE Select | ENSP00000037502.5:p.Lys39ThrfsTer? | |
| ENST00000638471.1:c.115_116insCC | ENSP00000491206.1:p.Lys39ThrfsTer? | |
| ENST00000037502.10:c.115_116insCC | ENSP00000037502.5:p.Lys39ThrfsTer? | |
| ENST00000614688.1:c.115_116insCC | ENSP00000478680.1:p.Lys39ThrfsTer? | |
| NM_000261.1:c.115_116insCC | NP_000252.1:p.Lys39ThrfsTer? | |
| NM_000261.2:c.115_116insCC MANE Select | NP_000252.1:p.Lys39ThrfsTer? |