Linked Data
dbSNP Id:
rs1744269299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332367_61332368insTGG , CM000667.2:g.61332367_61332368insTGG | GRCh38 |
| NC_000005.9:g.60628194_60628195insTGG , CM000667.1:g.60628194_60628195insTGG | GRCh37 |
| NC_000005.8:g.60663951_60663952insTGG | NCBI36 |
| NG_053150.1:g.5095_5096insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.95_96insTGG MANE Select | ENSP00000252744.5:p.Gly32_Gly33insGly | |
| ENST00000252744.5:c.95_96insTGG | ENSP00000252744.5:p.Gly32_Gly33insGly | |
| NM_020928.1:c.95_96insTGG | NP_065979.1:p.Gly32_Gly33insGly | |
| NM_020928.2:c.95_96insTGG MANE Select | NP_065979.1:p.Gly32_Gly33insGly |