Linked Data
ClinVar Variation Id:
289429
dbSNP Id:
rs148418568
ExAC:
2:178364363 A / C
gnomAD v2:
2-178364363-A-C
gnomAD v3:
2-177499635-A-C
gnomAD v4:
2-177499635-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177499635A>C , CM000664.2:g.177499635A>C | GRCh38 |
| NC_000002.11:g.178364363A>C , CM000664.1:g.178364363A>C | GRCh37 |
| NC_000002.10:g.178072609A>C | NCBI36 |
| NG_008968.1:g.111893A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.1380A>C MANE Select | ENSP00000264167.4:p.Pro460= | |
| ENST00000637633.2:c.1380A>C | ENSP00000490844.2:p.Pro460= | |
| ENST00000642466.2:c.1380A>C | ENSP00000494433.2:p.Pro460= | |
| ENST00000679421.1:n.2609A>C | ||
| ENST00000679459.1:c.1380A>C | ENSP00000506137.1:p.Pro460= | |
| ENST00000679478.1:c.1110A>C | ENSP00000506484.1:p.Pro370= | |
| ENST00000679994.1:c.1110A>C | ENSP00000504957.1:p.Pro370= | |
| ENST00000680028.1:n.2744A>C | ||
| ENST00000680155.1:c.1110A>C | ENSP00000505333.1:p.Pro370= | |
| ENST00000680390.1:n.415A>C | ||
| ENST00000680705.1:n.1424A>C | ||
| ENST00000680770.1:c.1380A>C | ENSP00000505536.1:p.Pro460= | |
| ENST00000680893.1:c.*628A>C | ENSP00000505929.1:n.*628A>C | |
| ENST00000680910.1:n.1410A>C | ||
| ENST00000681028.1:c.1110A>C | ENSP00000506323.1:p.Pro370= | |
| ENST00000681032.1:c.*758A>C | ENSP00000505205.1:n.*758A>C | |
| ENST00000681300.1:n.335A>C | ||
| ENST00000681449.1:c.1110A>C | ENSP00000505342.1:p.Pro370= | |
| ENST00000681565.1:c.*513A>C | ENSP00000505620.1:n.*513A>C | |
| ENST00000681752.1:c.*1150A>C | ENSP00000504994.1:n.*1150A>C | |
| ENST00000681891.1:n.5015A>C | ||
| ENST00000264167.8:c.1380A>C | ENSP00000264167.4:p.Pro460= | |
| ENST00000409888.1:c.351-21694A>C | ENSP00000386688.1:n.351-21694A>C | |
| NM_003659.3:c.1380A>C | NP_003650.1:p.Pro460= | |
| XM_011512041.1:c.1110A>C | XP_011510343.1:p.Pro370= | |
| XM_011512042.1:c.1110A>C | XP_011510344.1:p.Pro370= | |
| XM_011512043.1:c.645A>C | XP_011510345.1:p.Pro215= | |
| XM_011512041.2:c.1110A>C | XP_011510343.1:p.Pro370= | |
| XM_011512043.2:c.645A>C | XP_011510345.1:p.Pro215= | |
| XR_001739007.2:n.1288A>C | ||
| NM_003659.4:c.1380A>C MANE Select | NP_003650.1:p.Pro460= |