Linked Data
ClinVar Variation Id:
1401486
ClinVar RCV Id:
RCV001906313
dbSNP Id:
rs1973175925
gnomAD v3:
19-35848379-T-G
gnomAD v4:
19-35848379-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848379T>G , CM000681.2:g.35848379T>G | GRCh38 |
| NC_000019.9:g.36339281T>G , CM000681.1:g.36339281T>G | GRCh37 |
| NC_000019.8:g.41031121T>G | NCBI36 |
| NG_013356.2:g.25909A>C , LRG_693:g.25909A>C | |
| NG_051206.1:g.1745T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1189A>C MANE Select | ENSP00000368190.4:p.Ile397Leu | |
| ENST00000353632.6:c.1189A>C | ENSP00000343634.5:p.Ile397Leu | |
| ENST00000378910.9:c.1189A>C | ENSP00000368190.4:p.Ile397Leu | |
| ENST00000592132.1:n.196A>C | ||
| NM_004646.3:c.1189A>C , LRG_693t1:c.1189A>C | NP_004637.1:p.Ile397Leu | |
| NM_004646.4:c.1189A>C MANE Select | NP_004637.1:p.Ile397Leu |