Linked Data
ClinVar Variation Id:
448436
ClinVar RCV Id:
RCV000517143
dbSNP Id:
rs1235629842
gnomAD v2:
21-33039686-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667373G>C , CM000683.2:g.31667373G>C | GRCh38 |
| NC_000021.8:g.33039686G>C , CM000683.1:g.33039686G>C | GRCh37 |
| NC_000021.7:g.31961557G>C | NCBI36 |
| NG_008689.1:g.12752G>C , LRG_652:g.12752G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.355G>C MANE Select | ENSP00000270142.7:p.Val119Leu | |
| ENST00000270142.10:c.355G>C | ENSP00000270142.6:p.Val119Leu | |
| ENST00000389995.4:c.298G>C | ENSP00000374645.4:p.Val100Leu | |
| ENST00000470944.1:n.1283G>C | ||
| NM_000454.4:c.355G>C , LRG_652t1:c.355G>C | NP_000445.1:p.Val119Leu | |
| NM_000454.5:c.355G>C MANE Select | NP_000445.1:p.Val119Leu |