Linked Data
ClinVar Variation Id:
1944019
dbSNP Id:
rs139123379
ExAC:
11:118362021 T / C
gnomAD v2:
11-118362021-T-C
gnomAD v3:
11-118491306-T-C
gnomAD v4:
11-118491306-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118491306T>C , CM000673.2:g.118491306T>C | GRCh38 |
| NC_000011.9:g.118362021T>C , CM000673.1:g.118362021T>C | GRCh37 |
| NC_000011.8:g.117867231T>C | NCBI36 |
| NG_027813.1:g.59817T>C , LRG_613:g.59817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.4906T>C | ENSP00000432391.3:p.Ser1636Pro | |
| ENST00000710560.1:c.4906T>C | ENSP00000518343.1:p.Ser1636Pro | |
| ENST00000685498.1:c.583T>C | ENSP00000509293.1:p.Ser195Pro | |
| ENST00000691053.1:c.4807T>C | ENSP00000509168.1:p.Ser1603Pro | |
| ENST00000389506.10:c.4807T>C | ENSP00000374157.5:p.Ser1603Pro | |
| ENST00000534358.8:c.4807T>C MANE Select | ENSP00000436786.2:p.Ser1603Pro | |
| ENST00000649699.1:c.4693T>C | ENSP00000496927.1:p.Ser1565Pro | |
| ENST00000389506.9:c.4807T>C | ENSP00000374157.5:p.Ser1603Pro | |
| ENST00000392873.3:c.943T>C | ENSP00000376612.3:p.Ser315Pro | |
| ENST00000534358.5:c.4807T>C | ENSP00000436786.1:p.Ser1603Pro | |
| NM_001197104.1:c.4807T>C , LRG_613t1:c.4807T>C | NP_001184033.1:p.Ser1603Pro | |
| NM_005933.3:c.4807T>C | NP_005924.2:p.Ser1603Pro | |
| XM_006718839.2:c.2290T>C | XP_006718902.2:p.Ser764Pro | |
| XM_011542829.1:c.4906T>C | XP_011541131.1:p.Ser1636Pro | |
| XM_011542830.1:c.4903T>C | XP_011541132.1:p.Ser1635Pro | |
| XM_011542831.1:c.4906T>C | XP_011541133.1:p.Ser1636Pro | |
| XM_011542832.1:c.2713T>C | XP_011541134.1:p.Ser905Pro | |
| XM_011542833.1:c.2389T>C | XP_011541135.1:p.Ser797Pro | |
| XM_006718839.3:c.2290T>C | XP_006718902.2:p.Ser764Pro | |
| XM_011542829.2:c.4906T>C | XP_011541131.1:p.Ser1636Pro | |
| XM_011542830.2:c.4903T>C | XP_011541132.1:p.Ser1635Pro | |
| XM_011542831.2:c.4906T>C | XP_011541133.1:p.Ser1636Pro | |
| XM_011542833.2:c.2389T>C | XP_011541135.1:p.Ser797Pro | |
| NM_001197104.2:c.4807T>C MANE Select | NP_001184033.1:p.Ser1603Pro | |
| NM_005933.4:c.4807T>C | NP_005924.2:p.Ser1603Pro |