Linked Data
ClinVar Variation Id:
237738
ClinVar RCV Id:
RCV000606261
RCV000584100
RCV000758755
RCV000771081
RCV001139000
RCV001138999
RCV001837770
RCV002372257
dbSNP Id:
rs61743502
ExAC:
2:21225500 A / G
gnomAD v2:
2-21225500-A-G
gnomAD v3:
2-21002628-A-G
gnomAD v4:
2-21002628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002628A>G , CM000664.2:g.21002628A>G | GRCh38 |
| NC_000002.11:g.21225500A>G , CM000664.1:g.21225500A>G | GRCh37 |
| NC_000002.10:g.21079005A>G | NCBI36 |
| NG_011793.1:g.46446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12794T>C MANE Select | ENSP00000233242.1:p.Val4265Ala | |
| ENST00000616098.4:c.12794T>C | ENSP00000477990.1:p.Val4265Ala | |
| NM_000384.2:c.12794T>C | NP_000375.2:p.Val4265Ala | |
| XM_011532809.1:c.5870-3355T>C | XP_011531111.1:n.5870-3355T>C | |
| NM_000384.3:c.12794T>C MANE Select | NP_000375.3:p.Val4265Ala |