Linked Data
ClinVar Variation Id:
425025
dbSNP Id:
rs147485868
ExAC:
13:31897910 G / A
gnomAD v2:
13-31897910-G-A
gnomAD v3:
13-31323773-G-A
gnomAD v4:
13-31323773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31323773G>A , CM000675.2:g.31323773G>A | GRCh38 |
| NC_000013.10:g.31897910G>A , CM000675.1:g.31897910G>A | GRCh37 |
| NC_000013.9:g.30795910G>A | NCBI36 |
| NG_011732.1:g.128799G>A | |
| NG_011732.2:g.128799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343307.5:c.1207G>A MANE Select | ENSP00000343002.4:p.Val403Ile | |
| ENST00000343307.4:c.1207G>A | ENSP00000343002.4:p.Val403Ile | |
| NM_194318.3:c.1207G>A | NP_919299.3:p.Val403Ile | |
| XM_006719768.2:c.1150G>A | XP_006719831.1:p.Val384Ile | |
| XM_011534936.1:c.1087G>A | XP_011533238.1:p.Val363Ile | |
| XM_011534937.1:c.1087G>A | XP_011533239.1:p.Val363Ile | |
| XM_011534938.1:c.1060G>A | XP_011533240.1:p.Val354Ile | |
| XM_006719768.3:c.1150G>A | XP_006719831.1:p.Val384Ile | |
| XM_011534938.2:c.1060G>A | XP_011533240.1:p.Val354Ile | |
| XM_017020395.1:c.1060G>A | XP_016875884.1:p.Val354Ile | |
| NM_194318.4:c.1207G>A MANE Select | NP_919299.3:p.Val403Ile |