Linked Data
ClinVar Variation Id:
2051211
ClinVar RCV Id:
RCV002904770
gnomAD v4:
8-19948325-G-C
MyVariant Identifiers:
chr8:g.19805836G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948325G>C , CM000670.2:g.19948325G>C | GRCh38 |
| NC_000008.10:g.19805836G>C , CM000670.1:g.19805836G>C | GRCh37 |
| NC_000008.9:g.19850116G>C | NCBI36 |
| NG_008855.1:g.14255G>C | |
| NG_008855.2:g.51609G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.234G>C MANE Select | ENSP00000497642.1:p.Val78= | |
| ENST00000311322.8:c.234G>C | ENSP00000309757.6:p.Val78= | |
| ENST00000520959.5:c.6G>C | ENSP00000428496.1:p.Val2= | |
| ENST00000521994.1:n.419G>C | ||
| ENST00000522701.5:c.234G>C | ENSP00000428557.1:p.Val78= | |
| ENST00000523696.1:n.303G>C | ||
| ENST00000524029.5:c.234G>C | ENSP00000428237.1:p.Val78= | |
| NM_000237.2:c.234G>C | NP_000228.1:p.Val78= | |
| NM_000237.3:c.234G>C MANE Select | NP_000228.1:p.Val78= |