Linked Data
ClinVar Variation Id:
430877
ClinVar RCV Id:
RCV000495969
dbSNP Id:
rs1131692245
gnomAD v4:
19-35844109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844109C>T , CM000681.2:g.35844109C>T | GRCh38 |
| NC_000019.9:g.36335011C>T , CM000681.1:g.36335011C>T | GRCh37 |
| NC_000019.8:g.41026851C>T | NCBI36 |
| NG_013356.2:g.30179G>A , LRG_693:g.30179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2206G>A MANE Select | ENSP00000368190.4:p.Val736Met | |
| ENST00000353632.6:c.2206G>A | ENSP00000343634.5:p.Val736Met | |
| ENST00000378910.9:c.2206G>A | ENSP00000368190.4:p.Val736Met | |
| ENST00000585400.1:n.388G>A | ||
| NM_004646.3:c.2206G>A , LRG_693t1:c.2206G>A | NP_004637.1:p.Val736Met | |
| NM_004646.4:c.2206G>A MANE Select | NP_004637.1:p.Val736Met |