Linked Data
ClinVar Variation Id:
1744081
ClinVar RCV Id:
RCV002351235
dbSNP Id:
rs371365065
gnomAD v4:
9-136504774-G-C
MyVariant Identifiers:
chr9:g.139399226G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504774G>C , CM000671.2:g.136504774G>C | GRCh38 |
| NC_000009.11:g.139399226G>C , CM000671.1:g.139399226G>C | GRCh37 |
| NC_000009.10:g.138519047G>C | NCBI36 |
| NG_007458.1:g.46013C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2724C>G | ||
| ENST00000651671.1:c.4917C>G MANE Select | ENSP00000498587.1:p.Ala1639= | |
| ENST00000679595.1:c.4917C>G | ENSP00000506241.1:p.Ala1639= | |
| ENST00000680133.1:c.4803C>G | ENSP00000505319.1:p.Ala1601= | |
| ENST00000680218.1:c.4797C>G | ENSP00000505339.1:p.Ala1599= | |
| ENST00000680668.1:c.4803C>G | ENSP00000506336.1:p.Ala1601= | |
| ENST00000680778.1:c.2514C>G | ENSP00000506033.1:p.Ala838= | |
| ENST00000680924.1:c.*2317C>G | ENSP00000506031.1:n.*2317C>G | |
| ENST00000681135.1:c.*2526C>G | ENSP00000506636.1:n.*2526C>G | |
| ENST00000681298.1:n.1730C>G | ||
| ENST00000681454.1:c.*4153C>G | ENSP00000505763.1:n.*4153C>G | |
| ENST00000277541.6:c.4917C>G | ENSP00000277541.6:p.Ala1639= | |
| ENST00000494783.1:n.72C>G | ||
| NM_017617.3:c.4917C>G | NP_060087.3:p.Ala1639= | |
| XM_011518717.1:c.4218C>G | XP_011517019.1:p.Ala1406= | |
| NM_017617.5:c.4917C>G MANE Select | NP_060087.3:p.Ala1639= | |
| XM_011518717.2:c.4194C>G | XP_011517019.2:p.Ala1398= |