Linked Data
ClinVar Variation Id:
227290
dbSNP Id:
rs143443833
ExAC:
9:117168984 C / T
gnomAD v2:
9-117168984-C-T
gnomAD v3:
9-114406704-C-T
gnomAD v4:
9-114406704-C-T
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114406704C>T , CM000671.2:g.114406704C>T | GRCh38 |
| NC_000009.11:g.117168984C>T , CM000671.1:g.117168984C>T | GRCh37 |
| NC_000009.10:g.116208805C>T | NCBI36 |
| NG_016700.1:g.103753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.231G>A | ENSP00000514396.1:p.Pro77= | |
| ENST00000362057.4:c.1887G>A MANE Select | ENSP00000354623.3:p.Pro629= | |
| ENST00000673811.1:n.2611G>A | ||
| ENST00000674036.8:c.860G>A | ||
| ENST00000674048.1:n.1768G>A | ||
| ENST00000265134.10:c.738G>A | ENSP00000265134.6:p.Pro246= | |
| ENST00000362057.3:c.1887G>A | ENSP00000354623.3:p.Pro629= | |
| ENST00000374059.7:c.834G>A | ENSP00000363172.3:p.Pro278= | |
| NM_001083885.2:c.738G>A | NP_001077354.2:p.Pro246= | |
| NM_001173425.1:c.1887G>A | NP_001166896.1:p.Pro629= | |
| NM_015404.3:c.1887G>A | NP_056219.3:p.Pro629= | |
| XM_005251897.3:c.1224G>A | XP_005251954.2:p.Pro408= | |
| XM_011518484.1:c.1920G>A | XP_011516786.1:p.Pro640= | |
| XM_011518485.1:c.1920G>A | XP_011516787.1:p.Pro640= | |
| XM_011518486.1:c.1920G>A | XP_011516788.1:p.Pro640= | |
| XM_011518487.1:c.1794G>A | XP_011516789.1:p.Pro598= | |
| XM_011518488.1:c.1677G>A | XP_011516790.1:p.Pro559= | |
| XM_011518495.1:c.597G>A | XP_011516797.1:p.Pro199= | |
| XR_929747.1:n.2824G>A | ||
| XR_929748.1:n.2722G>A | ||
| NM_001346890.1:c.834G>A | NP_001333819.1:p.Pro278= | |
| XM_011518486.2:c.1920G>A | XP_011516788.1:p.Pro640= | |
| XM_011518487.2:c.1794G>A | XP_011516789.1:p.Pro598= | |
| XM_011518488.2:c.1677G>A | XP_011516790.1:p.Pro559= | |
| XR_929747.2:n.2135G>A | ||
| XR_929748.2:n.2033G>A | ||
| NM_015404.4:c.1887G>A MANE Select | NP_056219.3:p.Pro629= | |
| NM_001173425.2:c.1887G>A | NP_001166896.1:p.Pro629= | |
| NM_001083885.3:c.738G>A | NP_001077354.2:p.Pro246= |