Linked Data
ClinVar Variation Id:
626575
ClinVar RCV Id:
RCV000769590
dbSNP Id:
rs758702512
MyVariant Identifiers:
chr9:g.139393589G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136499137G>C , CM000671.2:g.136499137G>C | GRCh38 |
| NC_000009.11:g.139393589G>C , CM000671.1:g.139393589G>C | GRCh37 |
| NC_000009.10:g.138513410G>C | NCBI36 |
| NG_007458.1:g.51650C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6057C>G MANE Select | ENSP00000498587.1:p.Ala2019= | |
| ENST00000679595.1:c.*1097C>G | ENSP00000506241.1:n.*1097C>G | |
| ENST00000679969.1:n.2538C>G | ||
| ENST00000680003.1:n.2389C>G | ||
| ENST00000680133.1:c.5943C>G | ENSP00000505319.1:p.Ala1981= | |
| ENST00000680218.1:c.5937C>G | ENSP00000505339.1:p.Ala1979= | |
| ENST00000680668.1:c.5943C>G | ENSP00000506336.1:p.Ala1981= | |
| ENST00000680778.1:c.3654C>G | ENSP00000506033.1:p.Ala1218= | |
| ENST00000680924.1:c.*3457C>G | ENSP00000506031.1:n.*3457C>G | |
| ENST00000681135.1:c.*3666C>G | ENSP00000506636.1:n.*3666C>G | |
| ENST00000681298.1:n.4162C>G | ||
| ENST00000681454.1:c.*5293C>G | ENSP00000505763.1:n.*5293C>G | |
| ENST00000277541.6:c.6057C>G | ENSP00000277541.6:p.Ala2019= | |
| NM_017617.3:c.6057C>G | NP_060087.3:p.Ala2019= | |
| XM_011518717.1:c.5358C>G | XP_011517019.1:p.Ala1786= | |
| NM_017617.5:c.6057C>G MANE Select | NP_060087.3:p.Ala2019= | |
| XM_011518717.2:c.5334C>G | XP_011517019.2:p.Ala1778= |