Linked Data
ClinVar Variation Id:
314572
ClinVar RCV Id:
RCV000379187
dbSNP Id:
rs886050830
gnomAD v3:
14-77506266-T-G
gnomAD v4:
14-77506266-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77506266T>G , CM000676.2:g.77506266T>G | GRCh38 |
| NC_000014.8:g.77972609T>G , CM000676.1:g.77972609T>G | GRCh37 |
| NC_000014.7:g.77042362T>G | NCBI36 |
| NG_028282.1:g.115502A>C , LRG_371:g.115502A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.6739A>C | ||
| ENST00000687688.1:n.7470A>C | ||
| ENST00000692906.1:n.7439A>C | ||
| ENST00000216484.7:c.*6018A>C MANE Select | ENSP00000216484.2:n.*6018A>C | |
| ENST00000216484.6:c.*6018A>C | ENSP00000216484.2:n.*6018A>C | |
| NM_004863.3:c.*6018A>C , LRG_371t1:c.*6018A>C | NP_004854.1:n.*6018A>C | |
| NM_004863.4:c.*6018A>C MANE Select | NP_004854.1:n.*6018A>C |