Linked Data
dbSNP Id:
rs1572783990
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011006_21011007insGG , CM000664.2:g.21011006_21011007insGG | GRCh38 |
| NC_000002.11:g.21233878_21233879insGG , CM000664.1:g.21233878_21233879insGG | GRCh37 |
| NC_000002.10:g.21087383_21087384insGG | NCBI36 |
| NG_011793.1:g.38068_38069insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5862_5863insCC MANE Select | ENSP00000233242.1:p.Val1955ProfsTer? | |
| ENST00000616098.4:c.5862_5863insCC | ENSP00000477990.1:p.Val1955ProfsTer? | |
| NM_000384.2:c.5862_5863insCC | NP_000375.2:p.Val1955ProfsTer? | |
| XM_011532809.1:c.5862_5863insCC | XP_011531111.1:p.Val1955ProfsTer? | |
| NM_000384.3:c.5862_5863insCC MANE Select | NP_000375.3:p.Val1955ProfsTer? |