Linked Data
dbSNP Id:
rs2059031381
gnomAD v3:
2-240877411-G-GGGGGCTCCA
gnomAD v4:
2-240877411-G-GGGGGCTCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877420_240877428dup , CM000664.2:g.240877420_240877428dup | GRCh38 |
| NC_000002.11:g.241816837_241816845dup , CM000664.1:g.241816837_241816845dup | GRCh37 |
| NC_000002.10:g.241465510_241465518dup | NCBI36 |
| NG_008005.1:g.13676_13684dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-117_847-109dup MANE Select | ENSP00000302620.3:n.847-117_847-109dup | |
| ENST00000307503.3:c.847-117_847-109dup | ENSP00000302620.3:n.847-117_847-109dup | |
| ENST00000470255.1:n.508_516dup | ||
| NM_000030.2:c.847-117_847-109dup | NP_000021.1:n.847-117_847-109dup | |
| NM_000030.3:c.847-117_847-109dup MANE Select | NP_000021.1:n.847-117_847-109dup |