Linked Data
ClinVar Variation Id:
1152469
ClinVar RCV Id:
RCV001493780
dbSNP Id:
rs1467425930
gnomAD v2:
19-36339186-G-A
gnomAD v4:
19-35848284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848284G>A , CM000681.2:g.35848284G>A | GRCh38 |
| NC_000019.9:g.36339186G>A , CM000681.1:g.36339186G>A | GRCh37 |
| NC_000019.8:g.41031026G>A | NCBI36 |
| NG_013356.2:g.26004C>T , LRG_693:g.26004C>T | |
| NG_051206.1:g.1650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1284C>T MANE Select | ENSP00000368190.4:p.Thr428= | |
| ENST00000353632.6:c.1284C>T | ENSP00000343634.5:p.Thr428= | |
| ENST00000378910.9:c.1284C>T | ENSP00000368190.4:p.Thr428= | |
| ENST00000592132.1:n.291C>T | ||
| NM_004646.3:c.1284C>T , LRG_693t1:c.1284C>T | NP_004637.1:p.Thr428= | |
| NM_004646.4:c.1284C>T MANE Select | NP_004637.1:p.Thr428= |