Linked Data
dbSNP Id:
rs1830153981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843188_134843191dup , CM000671.2:g.134843188_134843191dup | GRCh38 |
| NC_000009.11:g.137735034_137735037dup , CM000671.1:g.137735034_137735037dup | GRCh37 |
| NC_000009.10:g.136874855_136874858dup | NCBI36 |
| NG_008030.1:g.206383_206386dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*885_*888dup | ENSP00000360885.4:n.*885_*888dup | |
| ENST00000371817.8:c.*885_*888dup MANE Select | ENSP00000360882.3:n.*885_*888dup | |
| ENST00000371817.7:c.*885_*888dup | ENSP00000360882.3:n.*885_*888dup | |
| ENST00000618395.4:c.*885_*888dup | ENSP00000481360.1:n.*885_*888dup | |
| NM_000093.4:c.*885_*888dup | NP_000084.3:n.*885_*888dup | |
| NM_001278074.1:c.*885_*888dup | NP_001265003.1:n.*885_*888dup | |
| NR_103451.2:n.71-22981_71-22978dup | ||
| NM_000093.5:c.*885_*888dup MANE Select | NP_000084.3:n.*885_*888dup |