Linked Data
ClinVar Variation Id:
203387
dbSNP Id:
rs139279977
ExAC:
9:117168844 G / C
gnomAD v2:
9-117168844-G-C
gnomAD v3:
9-114406564-G-C
gnomAD v4:
9-114406564-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406564G>C , CM000671.2:g.114406564G>C | GRCh38 |
| NC_000009.11:g.117168844G>C , CM000671.1:g.117168844G>C | GRCh37 |
| NC_000009.10:g.116208665G>C | NCBI36 |
| NG_016700.1:g.103893C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.371C>G | ENSP00000514396.1:p.Pro124Arg | |
| ENST00000362057.4:c.2027C>G MANE Select | ENSP00000354623.3:p.Pro676Arg | |
| ENST00000674036.8:c.1000C>G | ||
| ENST00000674048.1:n.1908C>G | ||
| ENST00000265134.10:c.878C>G | ENSP00000265134.6:p.Pro293Arg | |
| ENST00000362057.3:c.2027C>G | ENSP00000354623.3:p.Pro676Arg | |
| ENST00000374059.7:c.974C>G | ENSP00000363172.3:p.Pro325Arg | |
| NM_001083885.2:c.878C>G | NP_001077354.2:p.Pro293Arg | |
| NM_001173425.1:c.2027C>G | NP_001166896.1:p.Pro676Arg | |
| NM_015404.3:c.2027C>G | NP_056219.3:p.Pro676Arg | |
| XM_005251897.3:c.1364C>G | XP_005251954.2:p.Pro455Arg | |
| XM_011518484.1:c.2060C>G | XP_011516786.1:p.Pro687Arg | |
| XM_011518485.1:c.2060C>G | XP_011516787.1:p.Pro687Arg | |
| XM_011518486.1:c.2060C>G | XP_011516788.1:p.Pro687Arg | |
| XM_011518487.1:c.1934C>G | XP_011516789.1:p.Pro645Arg | |
| XM_011518488.1:c.1817C>G | XP_011516790.1:p.Pro606Arg | |
| XM_011518495.1:c.737C>G | XP_011516797.1:p.Pro246Arg | |
| XR_929747.1:n.2964C>G | ||
| XR_929748.1:n.2862C>G | ||
| NM_001346890.1:c.974C>G | NP_001333819.1:p.Pro325Arg | |
| XM_011518486.2:c.2060C>G | XP_011516788.1:p.Pro687Arg | |
| XM_011518487.2:c.1934C>G | XP_011516789.1:p.Pro645Arg | |
| XM_011518488.2:c.1817C>G | XP_011516790.1:p.Pro606Arg | |
| XR_929747.2:n.2275C>G | ||
| XR_929748.2:n.2173C>G | ||
| NM_015404.4:c.2027C>G MANE Select | NP_056219.3:p.Pro676Arg | |
| NM_001173425.2:c.2027C>G | NP_001166896.1:p.Pro676Arg | |
| NM_001083885.3:c.878C>G | NP_001077354.2:p.Pro293Arg |