Linked Data
ClinVar Variation Id:
2036561
ClinVar RCV Id:
RCV002899239
dbSNP Id:
rs1808506924
gnomAD v3:
7-128845143-T-TA
gnomAD v4:
7-128845143-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128845144dup , CM000669.2:g.128845144dup | GRCh38 |
| NC_000007.13:g.128485198dup , CM000669.1:g.128485198dup | GRCh37 |
| NC_000007.12:g.128272434dup | NCBI36 |
| NG_011807.1:g.19716dup , LRG_870:g.19716dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3679dup MANE Select | ENSP00000327145.8:p.Thr1227AsnfsTer? | |
| ENST00000325888.12:c.3679dup | ENSP00000327145.8:p.Thr1227AsnfsTer? | |
| ENST00000346177.6:c.3679dup | ENSP00000344002.6:p.Thr1227AsnfsTer? | |
| NM_001127487.1:c.3679dup | NP_001120959.1:p.Thr1227AsnfsTer? | |
| NM_001458.4:c.3679dup , LRG_870t1:c.3679dup | NP_001449.3:p.Thr1227AsnfsTer? | |
| NM_001127487.2:c.3679dup | NP_001120959.1:p.Thr1227AsnfsTer? | |
| NM_001458.5:c.3679dup MANE Select | NP_001449.3:p.Thr1227AsnfsTer? |