Linked Data
ClinVar Variation Id:
222587
ClinVar RCV Id:
RCV000208142
RCV000220371
RCV000469566
RCV001185751
RCV001762452
RCV002485359
RCV003298272
RCV003997683
dbSNP Id:
rs869025397
gnomAD v2:
6-7585419-G-A
gnomAD v3:
6-7585186-G-A
gnomAD v4:
6-7585186-G-A
COSMIC:
COSM3629841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585186G>A , CM000668.2:g.7585186G>A | GRCh38 |
| NC_000006.11:g.7585419G>A , CM000668.1:g.7585419G>A | GRCh37 |
| NC_000006.10:g.7530418G>A | NCBI36 |
| NG_008803.1:g.48550G>A , LRG_423:g.48550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6595G>A | ENSP00000518230.1:p.Val2199Ile | |
| ENST00000379802.8:c.7924G>A MANE Select | ENSP00000369129.3:p.Val2642Ile | |
| ENST00000379802.7:c.7924G>A | ENSP00000369129.3:p.Val2642Ile | |
| ENST00000418664.2:c.6127G>A | ENSP00000396591.2:p.Val2043Ile | |
| NM_001008844.1:c.6127G>A | NP_001008844.1:p.Val2043Ile | |
| NM_004415.2:c.7924G>A , LRG_423t1:c.7924G>A | NP_004406.2:p.Val2642Ile | |
| XM_011514323.1:c.6595G>A | XP_011512625.1:p.Val2199Ile | |
| NM_001008844.2:c.6127G>A | NP_001008844.1:p.Val2043Ile | |
| NM_001319034.1:c.6595G>A | NP_001305963.1:p.Val2199Ile | |
| NM_004415.3:c.7924G>A | NP_004406.2:p.Val2642Ile | |
| NM_004415.4:c.7924G>A MANE Select | NP_004406.2:p.Val2642Ile | |
| NM_001008844.3:c.6127G>A | NP_001008844.1:p.Val2043Ile | |
| NM_001319034.2:c.6595G>A | NP_001305963.1:p.Val2199Ile |