Linked Data
ClinVar Variation Id:
2040038
ClinVar RCV Id:
RCV002886212
dbSNP Id:
rs1843050710
MyVariant Identifiers:
chr9:g.139399211C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504759C>G , CM000671.2:g.136504759C>G | GRCh38 |
| NC_000009.11:g.139399211C>G , CM000671.1:g.139399211C>G | GRCh37 |
| NC_000009.10:g.138519032C>G | NCBI36 |
| NG_007458.1:g.46028G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2739G>C | ||
| ENST00000651671.1:c.4932G>C MANE Select | ENSP00000498587.1:p.Leu1644= | |
| ENST00000679595.1:c.4932G>C | ENSP00000506241.1:p.Leu1644= | |
| ENST00000680133.1:c.4818G>C | ENSP00000505319.1:p.Leu1606= | |
| ENST00000680218.1:c.4812G>C | ENSP00000505339.1:p.Leu1604= | |
| ENST00000680668.1:c.4818G>C | ENSP00000506336.1:p.Leu1606= | |
| ENST00000680778.1:c.2529G>C | ENSP00000506033.1:p.Leu843= | |
| ENST00000680924.1:c.*2332G>C | ENSP00000506031.1:n.*2332G>C | |
| ENST00000681135.1:c.*2541G>C | ENSP00000506636.1:n.*2541G>C | |
| ENST00000681298.1:n.1745G>C | ||
| ENST00000681454.1:c.*4168G>C | ENSP00000505763.1:n.*4168G>C | |
| ENST00000277541.6:c.4932G>C | ENSP00000277541.6:p.Leu1644= | |
| ENST00000494783.1:n.87G>C | ||
| NM_017617.3:c.4932G>C | NP_060087.3:p.Leu1644= | |
| XM_011518717.1:c.4233G>C | XP_011517019.1:p.Leu1411= | |
| NM_017617.5:c.4932G>C MANE Select | NP_060087.3:p.Leu1644= | |
| XM_011518717.2:c.4209G>C | XP_011517019.2:p.Leu1403= |