Linked Data
dbSNP Id:
rs2127467945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202688dup , CM000668.2:g.32202688dup | GRCh38 |
| NC_000006.11:g.32170465dup , CM000668.1:g.32170465dup | GRCh37 |
| NC_000006.10:g.32278443dup | NCBI36 |
| NG_028190.1:g.26380dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-89dup MANE Select | ENSP00000364163.3:n.3232-89dup | |
| ENST00000474612.1:n.1229dup | ||
| NM_004557.3:c.3232-89dup | NP_004548.3:n.3232-89dup | |
| NR_134949.1:n.3472+1082dup | ||
| NR_134950.1:n.3370+1082dup | ||
| NM_004557.4:c.3232-89dup MANE Select | NP_004548.3:n.3232-89dup | |
| NR_134949.2:n.3472+1082dup | ||
| NR_134950.2:n.3370+1082dup |