Linked Data
dbSNP Id:
rs751939659
gnomAD v2:
14-61112290-C-CAA
gnomAD v3:
14-60645572-C-CAA
gnomAD v4:
14-60645572-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60645576_60645577dup , CM000676.2:g.60645576_60645577dup | GRCh38 |
| NC_000014.8:g.61112294_61112295dup , CM000676.1:g.61112294_61112295dup | GRCh37 |
| NC_000014.7:g.60182047_60182048dup | NCBI36 |
| NG_008231.1:g.8864_8865dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*709_*710dup MANE Select | ENSP00000494686.1:n.*709_*710dup | |
| ENST00000247182.6:c.*709_*710dup | ENSP00000247182.5:n.*709_*710dup | |
| ENST00000553535.2:n.1252_1253dup | ||
| ENST00000554986.2:c.*709_*710dup | ENSP00000452700.2:n.*709_*710dup | |
| ENST00000555955.3:n.2201_2202dup | ||
| NM_005982.3:c.*709_*710dup | NP_005973.1:n.*709_*710dup | |
| XM_017021602.2:c.*983_*984dup | XP_016877091.1:n.*983_*984dup | |
| NM_005982.4:c.*709_*710dup MANE Select | NP_005973.1:n.*709_*710dup |