Linked Data
ClinVar Variation Id:
2945592
ClinVar RCV Id:
RCV003803686
dbSNP Id:
rs752192551
ExAC:
2:21225193 A / C
gnomAD v2:
2-21225193-A-C
gnomAD v3:
2-21002321-A-C
gnomAD v4:
2-21002321-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002321A>C , CM000664.2:g.21002321A>C | GRCh38 |
| NC_000002.11:g.21225193A>C , CM000664.1:g.21225193A>C | GRCh37 |
| NC_000002.10:g.21078698A>C | NCBI36 |
| NG_011793.1:g.46753T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.13101T>G MANE Select | ENSP00000233242.1:p.Leu4367= | |
| ENST00000616098.4:c.13099T>G | ENSP00000477990.1:n.13099T>G | |
| NM_000384.2:c.13101T>G | NP_000375.2:p.Leu4367= | |
| XM_011532809.1:c.5870-3048T>G | XP_011531111.1:n.5870-3048T>G | |
| NM_000384.3:c.13101T>G MANE Select | NP_000375.3:p.Leu4367= |