Linked Data
ClinVar Variation Id:
1398297
ClinVar RCV Id:
RCV001912859
dbSNP Id:
rs751291501
gnomAD v3:
2-21002635-T-G
gnomAD v4:
2-21002635-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002635T>G , CM000664.2:g.21002635T>G | GRCh38 |
| NC_000002.11:g.21225507T>G , CM000664.1:g.21225507T>G | GRCh37 |
| NC_000002.10:g.21079012T>G | NCBI36 |
| NG_011793.1:g.46439A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12787A>C MANE Select | ENSP00000233242.1:p.Ile4263Leu | |
| ENST00000616098.4:c.12787A>C | ENSP00000477990.1:p.Ile4263Leu | |
| NM_000384.2:c.12787A>C | NP_000375.2:p.Ile4263Leu | |
| XM_011532809.1:c.5870-3362A>C | XP_011531111.1:n.5870-3362A>C | |
| NM_000384.3:c.12787A>C MANE Select | NP_000375.3:p.Ile4263Leu |