Linked Data
ClinVar Variation Id:
257536
dbSNP Id:
rs2228611
ExAC:
19:10267077 T / C
gnomAD v2:
19-10267077-T-C
gnomAD v3:
19-10156401-T-C
gnomAD v4:
19-10156401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10156401T>C , CM000681.2:g.10156401T>C | GRCh38 |
| NC_000019.9:g.10267077T>C , CM000681.1:g.10267077T>C | GRCh37 |
| NC_000019.8:g.10128077T>C | NCBI36 |
| NG_028016.3:g.79886A>G , LRG_362:g.79886A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359526.9:c.1389A>G MANE Select | ENSP00000352516.3:p.Pro463= | |
| ENST00000676604.1:n.1001A>G | ||
| ENST00000676610.1:c.1341A>G | ENSP00000504236.1:p.Pro447= | |
| ENST00000676820.1:n.1397A>G | ||
| ENST00000676868.1:n.2025A>G | ||
| ENST00000677013.1:c.*1031A>G | ENSP00000503135.1:n.*1031A>G | |
| ENST00000677250.1:c.*461A>G | ENSP00000502894.1:n.*461A>G | |
| ENST00000677616.1:c.1032A>G | ENSP00000503055.1:p.Pro344= | |
| ENST00000677634.1:c.1341A>G | ENSP00000504246.1:p.Pro447= | |
| ENST00000677685.1:c.*566A>G | ENSP00000503407.1:n.*566A>G | |
| ENST00000677783.1:n.1811A>G | ||
| ENST00000677946.1:c.1341A>G | ENSP00000504202.1:p.Pro447= | |
| ENST00000678024.1:n.1484A>G | ||
| ENST00000678694.1:n.662A>G | ||
| ENST00000678804.1:c.1341A>G | ENSP00000503853.1:p.Pro447= | |
| ENST00000679103.1:c.1341A>G | ENSP00000503151.1:p.Pro447= | |
| ENST00000679313.1:c.1341A>G | ENSP00000504512.1:p.Pro447= | |
| ENST00000340748.8:c.1341A>G | ENSP00000345739.3:p.Pro447= | |
| ENST00000359526.8:c.1389A>G | ENSP00000352516.3:p.Pro463= | |
| ENST00000540357.5:c.333A>G | ENSP00000440457.2:p.Pro111= | |
| ENST00000585843.1:n.546A>G | ||
| ENST00000592705.5:c.*1079A>G | ENSP00000466657.1:n.*1079A>G | |
| NM_001130823.1:c.1389A>G , LRG_362t1:c.1389A>G | NP_001124295.1:p.Pro463= | |
| NM_001379.2:c.1341A>G | NP_001370.1:p.Pro447= | |
| XM_011527772.1:c.1389A>G | XP_011526074.1:p.Pro463= | |
| XM_011527773.1:c.1341A>G | XP_011526075.1:p.Pro447= | |
| XM_011527774.1:c.978A>G | XP_011526076.1:p.Pro326= | |
| NM_001130823.2:c.1389A>G | NP_001124295.1:p.Pro463= | |
| NM_001318730.1:c.1341A>G | NP_001305659.1:p.Pro447= | |
| NM_001318731.1:c.1026A>G | NP_001305660.1:p.Pro342= | |
| NM_001379.3:c.1341A>G | NP_001370.1:p.Pro447= | |
| NM_001130823.3:c.1389A>G MANE Select | NP_001124295.1:p.Pro463= | |
| NM_001318730.2:c.1341A>G | NP_001305659.1:p.Pro447= | |
| NM_001318731.2:c.1026A>G | NP_001305660.1:p.Pro342= | |
| NM_001379.4:c.1341A>G | NP_001370.1:p.Pro447= |