Linked Data
ClinVar Variation Id:
1339483
ClinVar RCV Id:
RCV001843964
dbSNP Id:
rs1759969389
gnomAD v4:
5-35867463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867463G>A , CM000667.2:g.35867463G>A | GRCh38 |
| NC_000005.9:g.35867565G>A , CM000667.1:g.35867565G>A | GRCh37 |
| NC_000005.8:g.35903322G>A | NCBI36 |
| NG_009567.1:g.15575G>A , LRG_74:g.15575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.379G>A MANE Select | ENSP00000306157.3:p.Val127Ile | |
| ENST00000303115.7:c.379G>A | ENSP00000306157.3:p.Val127Ile | |
| ENST00000506850.5:c.379G>A | ENSP00000421207.1:p.Val127Ile | |
| ENST00000511031.1:n.513G>A | ||
| ENST00000511982.1:c.379G>A | ENSP00000425309.1:p.Gly127Ser | |
| ENST00000514217.5:c.379G>A | ENSP00000427688.1:p.Val127Ile | |
| NM_002185.3:c.379G>A | NP_002176.2:p.Val127Ile | |
| NR_120485.1:n.482G>A | ||
| XM_005248299.2:c.379G>A | XP_005248356.1:p.Val127Ile | |
| XM_005248300.1:c.379G>A | XP_005248357.1:p.Val127Ile | |
| XM_011514037.1:c.379G>A | XP_011512339.1:p.Val127Ile | |
| NM_002185.4:c.379G>A | NP_002176.2:p.Val127Ile | |
| NR_120485.2:n.508G>A | ||
| XM_005248299.4:c.379G>A | XP_005248356.1:p.Val127Ile | |
| NM_002185.5:c.379G>A MANE Select | NP_002176.2:p.Val127Ile | |
| NR_120485.3:n.466G>A |