Linked Data
ClinVar Variation Id:
454856
ClinVar RCV Id:
RCV000532406
dbSNP Id:
rs137924231
ExAC:
7:813729 C / T
gnomAD v2:
7-813729-C-T
gnomAD v3:
7-774092-C-T
gnomAD v4:
7-774092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.774092C>T , CM000669.2:g.774092C>T | GRCh38 |
| NC_000007.13:g.813729C>T , CM000669.1:g.813729C>T | GRCh37 |
| NC_000007.12:g.780255C>T | NCBI36 |
| NG_033137.1:g.52392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.1976C>T MANE Select | ENSP00000297440.6:p.Ala659Val | |
| ENST00000297440.10:c.1976C>T | ENSP00000297440.6:p.Ala659Val | |
| ENST00000403952.3:c.251C>T | ENSP00000384884.3:p.Ala84Val | |
| ENST00000440747.5:c.1380C>T | ||
| NM_017802.3:c.1976C>T | NP_060272.3:p.Ala659Val | |
| NR_075098.1:n.1934C>T | ||
| XM_024446813.1:c.1976C>T | XP_024302581.1:p.Ala659Val | |
| XM_024446814.1:c.1370C>T | XP_024302582.1:p.Ala457Val | |
| NM_017802.4:c.1976C>T MANE Select | NP_060272.3:p.Ala659Val | |
| NR_075098.2:n.1936C>T |