Linked Data
ClinVar Variation Id:
2563102
ClinVar RCV Id:
RCV003301263
dbSNP Id:
rs1334079108
gnomAD v4:
4-41745940-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745940T>C , CM000666.2:g.41745940T>C | GRCh38 |
| NC_000004.11:g.41747957T>C , CM000666.1:g.41747957T>C | GRCh37 |
| NC_000004.10:g.41442714T>C | NCBI36 |
| NG_008243.1:g.8031A>G , LRG_513:g.8031A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.812A>G MANE Select | ENSP00000226382.2:p.Gln271Arg | |
| ENST00000226382.3:c.812A>G | ENSP00000226382.2:p.Gln271Arg | |
| NM_003924.3:c.812A>G , LRG_513t1:c.812A>G | NP_003915.2:p.Gln271Arg | |
| NM_003924.4:c.812A>G MANE Select | NP_003915.2:p.Gln271Arg |