ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
von Willebrand disease type 2M
Revel Score:
ENST00000261405 (MANE Select)
0.662
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016784C>G , CM000674.2:g.6016784C>G | GRCh38 |
| NC_000012.11:g.6125950C>G , CM000674.1:g.6125950C>G | GRCh37 |
| NC_000012.10:g.5996211C>G | NCBI36 |
| NG_009072.1:g.112887G>C | |
| NG_009072.2:g.112887G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5140G>C MANE Select | ENSP00000261405.5:p.Ala1714Pro | |
| ENST00000261405.9:c.5140G>C | ENSP00000261405.5:p.Ala1714Pro | |
| ENST00000538635.5:n.421-22850G>C | ||
| NM_000552.3:c.5140G>C | NP_000543.2:p.Ala1714Pro | |
| NM_000552.4:c.5140G>C | NP_000543.2:p.Ala1714Pro | |
| NM_000552.5:c.5140G>C MANE Select | NP_000543.3:p.Ala1714Pro |