Linked Data
ClinVar Variation Id:
301593
ClinVar RCV Id:
RCV000389918
dbSNP Id:
rs146219881
gnomAD v2:
10-92672016-G-T
gnomAD v3:
10-90912259-G-T
gnomAD v4:
10-90912259-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90912259G>T , CM000672.2:g.90912259G>T | GRCh38 |
| NC_000010.10:g.92672016G>T , CM000672.1:g.92672016G>T | GRCh37 |
| NC_000010.9:g.92661996G>T | NCBI36 |
| NG_023227.1:g.14017C>A , LRG_379:g.14017C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371697.4:c.*607C>A MANE Select | ENSP00000360762.3:n.*607C>A | |
| ENST00000371697.3:c.*607C>A | ENSP00000360762.3:n.*607C>A | |
| NM_014391.2:c.*607C>A , LRG_379t1:c.*607C>A | NP_055206.2:n.*607C>A | |
| NM_014391.3:c.*607C>A MANE Select | NP_055206.2:n.*607C>A |