Linked Data
ClinVar Variation Id:
365675
dbSNP Id:
rs141570582
ExAC:
9:136523540 G / A
gnomAD v2:
9-136523540-G-A
gnomAD v3:
9-133658418-G-A
gnomAD v4:
9-133658418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133658418G>A , CM000671.2:g.133658418G>A | GRCh38 |
| NC_000009.11:g.136523540G>A , CM000671.1:g.136523540G>A | GRCh37 |
| NC_000009.10:g.135513361G>A | NCBI36 |
| NG_008645.1:g.27056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.1825G>A MANE Select | ENSP00000376776.2:p.Val609Ile | |
| ENST00000393056.6:c.1825G>A | ENSP00000376776.2:p.Val609Ile | |
| NM_000787.3:c.1825G>A | NP_000778.3:p.Val609Ile | |
| NM_000787.4:c.1825G>A MANE Select | NP_000778.3:p.Val609Ile |