Linked Data
ClinVar Variation Id:
385215
dbSNP Id:
rs376198104
gnomAD v2:
10-121429642-G-C
gnomAD v3:
10-119670130-G-C
gnomAD v4:
10-119670130-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670130G>C , CM000672.2:g.119670130G>C | GRCh38 |
| NC_000010.10:g.121429642G>C , CM000672.1:g.121429642G>C | GRCh37 |
| NC_000010.9:g.121419632G>C | NCBI36 |
| NG_016125.1:g.23761G>C , LRG_742:g.23761G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.460G>C MANE Select | ENSP00000358081.4:p.Val154Leu | |
| ENST00000369085.7:c.460G>C | ENSP00000358081.3:p.Val154Leu | |
| ENST00000450186.1:c.286G>C | ENSP00000410036.1:p.Val96Leu | |
| NM_004281.3:c.460G>C , LRG_742t1:c.460G>C | NP_004272.2:p.Val154Leu | |
| XM_005270287.1:c.460G>C | XP_005270344.1:p.Val154Leu | |
| XM_005270287.2:c.460G>C | XP_005270344.1:p.Val154Leu | |
| NM_004281.4:c.460G>C MANE Select | NP_004272.2:p.Val154Leu |