Linked Data
ClinVar Variation Id:
198590
ClinVar RCV Id:
RCV000179974
RCV000724105
RCV001083625
RCV001107198
RCV001107199
RCV001107200
RCV002255314
dbSNP Id:
rs151034312
ExAC:
11:32417936 A / G
gnomAD v2:
11-32417936-A-G
gnomAD v3:
11-32396390-A-G
gnomAD v4:
11-32396390-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396390A>G , CM000673.2:g.32396390A>G | GRCh38 |
| NC_000011.9:g.32417936A>G , CM000673.1:g.32417936A>G | GRCh37 |
| NC_000011.8:g.32374512A>G | NCBI36 |
| NG_009272.1:g.44152T>C , LRG_525:g.44152T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1080T>C | ENSP00000331327.5:p.Pro360= | |
| ENST00000379077.9:c.*315T>C | ENSP00000368368.5:n.*315T>C | |
| ENST00000379079.8:c.480T>C | ENSP00000368370.2:p.Pro160= | |
| ENST00000448076.9:c.1131T>C | ENSP00000413452.5:p.Pro377= | |
| ENST00000452863.10:c.1131T>C MANE Select | ENSP00000415516.5:p.Pro377= | |
| ENST00000526685.2:n.585T>C | ||
| ENST00000639563.3:c.1080T>C | ENSP00000492269.3:p.Pro360= | |
| ENST00000639907.2:n.274T>C | ||
| ENST00000640146.2:c.456T>C | ENSP00000491984.2:p.Pro152= | |
| ENST00000650861.1:n.1712T>C | ||
| ENST00000651459.1:c.35+3558T>C | ||
| ENST00000651668.1:n.68T>C | ||
| ENST00000651794.1:n.874T>C | ||
| ENST00000651819.1:n.56T>C | ||
| ENST00000652579.1:n.291T>C | ||
| ENST00000652724.1:n.321T>C | ||
| ENST00000332351.7:c.1116T>C | ENSP00000331327.3:p.Pro372= | |
| ENST00000379077.7:c.*315T>C | ENSP00000368368.3:n.*315T>C | |
| ENST00000379079.6:c.480T>C | ENSP00000368370.2:p.Pro160= | |
| ENST00000448076.7:c.1116T>C | ENSP00000413452.3:p.Pro372= | |
| ENST00000452863.7:c.1065T>C | ENSP00000415516.3:p.Pro355= | |
| ENST00000526685.1:c.-58T>C | ENSP00000436292.1:n.-58T>C | |
| ENST00000527775.1:c.369T>C | ENSP00000435351.1:p.Pro123= | |
| ENST00000527882.5:c.187T>C | ||
| ENST00000530998.5:c.429T>C | ENSP00000435307.1:p.Pro143= | |
| NM_000378.4:c.1065T>C | NP_000369.3:p.Pro355= | |
| NM_001198551.1:c.480T>C , LRG_525t2:c.480T>C | NP_001185480.1:p.Pro160= | |
| NM_001198552.1:c.429T>C | NP_001185481.1:p.Pro143= | |
| NM_024424.3:c.1116T>C | NP_077742.2:p.Pro372= | |
| NM_024426.4:c.1116T>C | NP_077744.3:p.Pro372= | |
| NM_000378.5:c.1080T>C | NP_000369.4:p.Pro360= | |
| NM_024424.4:c.1131T>C | NP_077742.3:p.Pro377= | |
| NM_024426.5:c.1131T>C | NP_077744.4:p.Pro377= | |
| NM_001367854.1:c.-58T>C | NP_001354783.1:n.-58T>C | |
| NR_160306.1:n.1463T>C | ||
| NM_000378.6:c.1080T>C | NP_000369.4:p.Pro360= | |
| NM_001198552.2:c.429T>C | NP_001185481.1:p.Pro143= | |
| NM_024424.5:c.1131T>C | NP_077742.3:p.Pro377= | |
| NM_024426.6:c.1131T>C MANE Select | NP_077744.4:p.Pro377= |