Linked Data
ClinVar Variation Id:
2208
ClinVar RCV Id:
RCV000002292
dbSNP Id:
rs104894540
gnomAD v4:
16-31094596-A-G
PubMed:
PMID:14765194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094596A>G , CM000678.2:g.31094596A>G | GRCh38 |
| NC_000016.9:g.31105917A>G , CM000678.1:g.31105917A>G | GRCh37 |
| NC_000016.8:g.31013418A>G | NCBI36 |
| NG_011564.1:g.5360T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.134T>C MANE Select | ENSP00000378426.2:p.Val45Ala | |
| ENST00000300851.10:c.134T>C | ENSP00000300851.6:p.Val45Ala | |
| ENST00000319788.11:c.134T>C | ENSP00000326135.7:p.Val45Ala | |
| ENST00000354895.4:c.134T>C | ENSP00000346969.4:p.Val45Ala | |
| ENST00000394975.2:c.134T>C | ENSP00000378426.2:p.Val45Ala | |
| ENST00000420057.2:c.245+793T>C | ||
| ENST00000498155.1:c.270+793T>C | ENSP00000417662.1:n.270+793T>C | |
| ENST00000529564.1:c.134T>C | ENSP00000431371.1:p.Val45Ala | |
| ENST00000532364.1:c.134T>C | ENSP00000460316.1:p.Val45Ala | |
| ENST00000533518.5:c.7T>C | ||
| NM_001311311.1:c.134T>C | NP_001298240.1:p.Val45Ala | |
| NM_024006.4:c.134T>C | NP_076869.1:p.Val45Ala | |
| NM_024006.5:c.134T>C | NP_076869.1:p.Val45Ala | |
| NM_206824.1:c.134T>C | NP_996560.1:p.Val45Ala | |
| NM_206824.2:c.134T>C | NP_996560.1:p.Val45Ala | |
| XM_011545944.1:c.134T>C | XP_011544246.1:p.Val45Ala | |
| XM_011545945.1:c.134T>C | XP_011544247.1:p.Val45Ala | |
| XR_950848.1:n.922T>C | ||
| NM_024006.6:c.134T>C MANE Select | NP_076869.1:p.Val45Ala | |
| NM_001311311.2:c.134T>C | NP_001298240.1:p.Val45Ala | |
| NM_206824.3:c.134T>C | NP_996560.1:p.Val45Ala |