Linked Data
ClinVar Variation Id:
730852
dbSNP Id:
rs145570114
ExAC:
1:151378722 G / A
gnomAD v2:
1-151378722-G-A
gnomAD v3:
1-151406246-G-A
gnomAD v4:
1-151406246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406246G>A , CM000663.2:g.151406246G>A | GRCh38 |
| NC_000001.10:g.151378722G>A , CM000663.1:g.151378722G>A | GRCh37 |
| NC_000001.9:g.149645346G>A | NCBI36 |
| NG_046601.1:g.58220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.2837C>T | ENSP00000518163.1:p.Pro946Leu | |
| ENST00000392723.6:c.2630C>T | ENSP00000376484.1:p.Pro877Leu | |
| ENST00000439756.2:c.2789C>T | ENSP00000390156.2:p.Pro930Leu | |
| ENST00000703168.1:c.2810C>T | ENSP00000515214.1:p.Pro937Leu | |
| ENST00000271715.7:c.2789C>T MANE Select | ENSP00000271715.2:p.Pro930Leu | |
| ENST00000271715.6:c.2789C>T | ENSP00000271715.2:p.Pro930Leu | |
| ENST00000358476.7:n.2937C>T | ||
| ENST00000368863.6:c.2504C>T | ENSP00000357856.2:p.Pro835Leu | |
| ENST00000392723.5:c.2630C>T | ENSP00000376484.1:p.Pro877Leu | |
| ENST00000409503.5:c.2762C>T | ENSP00000386836.1:p.Pro921Leu | |
| ENST00000491586.5:c.2657C>T | ENSP00000418408.1:p.Pro886Leu | |
| ENST00000531094.5:c.2603C>T | ENSP00000431259.1:p.Pro868Leu | |
| NM_001194937.1:c.2762C>T | NP_001181866.1:p.Pro921Leu | |
| NM_001194938.1:c.2603C>T | NP_001181867.1:p.Pro868Leu | |
| NM_015100.3:c.2789C>T | NP_055915.2:p.Pro930Leu | |
| NM_145796.3:c.2504C>T | NP_665739.3:p.Pro835Leu | |
| NM_207171.2:c.2630C>T | NP_997054.1:p.Pro877Leu | |
| XM_005244999.1:c.2789C>T | XP_005245056.1:p.Pro930Leu | |
| XM_005245000.3:c.2789C>T | XP_005245057.1:p.Pro930Leu | |
| XM_005245001.1:c.2789C>T | XP_005245058.1:p.Pro930Leu | |
| XM_005245005.1:c.2630C>T | XP_005245062.1:p.Pro877Leu | |
| XM_005245006.3:c.2630C>T | XP_005245063.1:p.Pro877Leu | |
| XM_011509330.1:c.2681C>T | XP_011507632.1:p.Pro894Leu | |
| XM_011509331.1:c.2432C>T | XP_011507633.1:p.Pro811Leu | |
| XM_005244999.3:c.2789C>T | XP_005245056.1:p.Pro930Leu | |
| XM_005245000.4:c.2789C>T | XP_005245057.1:p.Pro930Leu | |
| XM_005245001.2:c.2789C>T | XP_005245058.1:p.Pro930Leu | |
| XM_005245005.2:c.2630C>T | XP_005245062.1:p.Pro877Leu | |
| XM_005245006.5:c.2630C>T | XP_005245063.1:p.Pro877Leu | |
| XM_017000744.1:c.2810C>T | XP_016856233.1:p.Pro937Leu | |
| XM_017000745.2:c.2762C>T | XP_016856234.1:p.Pro921Leu | |
| XM_017000746.1:c.2762C>T | XP_016856235.1:p.Pro921Leu | |
| XM_017000748.1:c.2630C>T | XP_016856237.1:p.Pro877Leu | |
| XM_017000749.1:c.2630C>T | XP_016856238.1:p.Pro877Leu | |
| XM_024454305.1:c.2663C>T | XP_024310073.1:p.Pro888Leu | |
| XM_024454306.1:c.1589C>T | XP_024310074.1:p.Pro530Leu | |
| XR_002959801.1:n.2644C>T | ||
| NM_015100.4:c.2789C>T MANE Select | NP_055915.2:p.Pro930Leu | |
| NM_001194937.2:c.2762C>T | NP_001181866.1:p.Pro921Leu | |
| NM_001194938.2:c.2603C>T | NP_001181867.1:p.Pro868Leu | |
| NM_145796.4:c.2504C>T | NP_665739.3:p.Pro835Leu |