Linked Data
ClinVar Variation Id:
1490208
ClinVar RCV Id:
RCV001978519
dbSNP Id:
rs775551445
ExAC:
7:128485175 C / T
gnomAD v2:
7-128485175-C-T
gnomAD v4:
7-128845121-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128845121C>T , CM000669.2:g.128845121C>T | GRCh38 |
| NC_000007.13:g.128485175C>T , CM000669.1:g.128485175C>T | GRCh37 |
| NC_000007.12:g.128272411C>T | NCBI36 |
| NG_011807.1:g.19693C>T , LRG_870:g.19693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.3656C>T MANE Select | ENSP00000327145.8:p.Ala1219Val | |
| ENST00000325888.12:c.3656C>T | ENSP00000327145.8:p.Ala1219Val | |
| ENST00000346177.6:c.3656C>T | ENSP00000344002.6:p.Ala1219Val | |
| NM_001127487.1:c.3656C>T | NP_001120959.1:p.Ala1219Val | |
| NM_001458.4:c.3656C>T , LRG_870t1:c.3656C>T | NP_001449.3:p.Ala1219Val | |
| NM_001127487.2:c.3656C>T | NP_001120959.1:p.Ala1219Val | |
| NM_001458.5:c.3656C>T MANE Select | NP_001449.3:p.Ala1219Val |