Linked Data
ClinVar Variation Id:
833706
ClinVar RCV Id:
RCV001034189
dbSNP Id:
rs1400545711
gnomAD v2:
14-29236903-G-A
gnomAD v4:
14-28767697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767697G>A , CM000676.2:g.28767697G>A | GRCh38 |
| NC_000014.8:g.29236903G>A , CM000676.1:g.29236903G>A | GRCh37 |
| NC_000014.7:g.28306654G>A | NCBI36 |
| NG_009367.1:g.5617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.418G>A | ENSP00000516406.1:p.Val140Ile | |
| ENST00000313071.7:c.418G>A MANE Select | ENSP00000339004.3:p.Val140Ile | |
| ENST00000313071.6:c.418G>A | ENSP00000339004.3:p.Val140Ile | |
| NM_005249.4:c.418G>A | NP_005240.3:p.Val140Ile | |
| NM_005249.5:c.418G>A MANE Select | NP_005240.3:p.Val140Ile |