Linked Data
ClinVar Variation Id:
55805
ClinVar RCV Id:
RCV000049231
dbSNP Id:
rs587776987
gnomAD v4:
16-88716885-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88716885A>C , CM000678.2:g.88716885A>C | GRCh38 |
| NC_000016.9:g.88783293A>C , CM000678.1:g.88783293A>C | GRCh37 |
| NC_000016.8:g.87310794A>C | NCBI36 |
| NG_042229.1:g.73336T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6674T>G MANE Select | ENSP00000301015.9:p.Met2225Arg | |
| ENST00000484567.6:n.1733T>G | ||
| ENST00000301015.13:c.6674T>G | ENSP00000301015.9:p.Met2225Arg | |
| ENST00000327397.8:c.278T>G | ENSP00000333704.7:p.Met93Arg | |
| ENST00000419505.5:c.519T>G | ENSP00000406358.1:n.519T>G | |
| ENST00000484567.5:n.1310T>G | ||
| NM_001142864.2:c.6674T>G | NP_001136336.2:p.Met2225Arg | |
| NM_001142864.3:c.6674T>G | NP_001136336.2:p.Met2225Arg | |
| NM_001142864.4:c.6674T>G MANE Select | NP_001136336.2:p.Met2225Arg |