Linked Data
dbSNP Id:
rs149037075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255470_133255473dup , CM000671.2:g.133255470_133255473dup | GRCh38 |
| NC_000009.11:g.136130857_136130860dup , CM000671.1:g.136130857_136130860dup | GRCh37 |
| NC_000009.10:g.135120678_135120681dup | NCBI36 |
| NG_006669.1:g.22196_22199dup | |
| NG_006669.2:g.24744_24747dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1288_1291dup | ||
| ENST00000647353.1:n.54-4320_54-4317dup | ||
| ENST00000679909.1:c.28+19690_28+19693dup | ENSP00000506089.1:n.28+19690_28+19693dup | |
| ENST00000453660.3:n.1270_1273dup | ||
| ENST00000611156.4:c.*194_*197dup | ENSP00000483265.1:n.*194_*197dup | |
| NM_020469.2:c.*194_*197dup | NP_065202.2:n.*194_*197dup | |
| NM_020469.3:c.*194_*197dup | NP_065202.2:n.*194_*197dup |