Linked Data
ClinVar Variation Id:
2262696
ClinVar RCV Id:
RCV002778525
dbSNP Id:
rs1324055054
gnomAD v2:
18-67794955-A-G
gnomAD v3:
18-70127719-A-G
gnomAD v4:
18-70127719-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70127719A>G , CM000680.2:g.70127719A>G | GRCh38 |
| NC_000018.9:g.67794955A>G , CM000680.1:g.67794955A>G | GRCh37 |
| NC_000018.8:g.65945935A>G | NCBI36 |
| NG_033104.1:g.83008T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255674.11:c.3166T>C | ENSP00000255674.7:p.Ser1056Pro | |
| ENST00000638251.1:c.*1158T>C | ENSP00000491968.1:n.*1158T>C | |
| ENST00000638298.1:c.155T>C | ||
| ENST00000639128.1:n.712T>C | ||
| ENST00000640376.1:c.2624+639T>C | ENSP00000491654.1:n.2624+639T>C | |
| ENST00000640408.1:n.3598T>C | ||
| ENST00000640769.2:c.3166T>C MANE Select | ENSP00000491507.1:p.Ser1056Pro | |
| ENST00000640931.1:c.387T>C | ||
| ENST00000677824.1:c.783-6019T>C | ENSP00000504646.1:n.783-6019T>C | |
| ENST00000679113.1:c.388T>C | ENSP00000504487.1:p.Ser130Pro | |
| ENST00000255674.10:c.3166T>C | ENSP00000255674.6:p.Ser1056Pro | |
| ENST00000581161.5:c.*1480T>C | ENSP00000462926.1:n.*1480T>C | |
| ENST00000583043.5:c.2447T>C | ENSP00000462733.1:n.2447T>C | |
| NM_173630.3:c.3166T>C | NP_775901.3:p.Ser1056Pro | |
| XM_005266679.1:c.430T>C | XP_005266736.1:p.Ser144Pro | |
| XM_006722434.2:c.3169T>C | XP_006722497.1:p.Ser1057Pro | |
| XM_006722435.2:c.3169T>C | XP_006722498.1:p.Ser1057Pro | |
| XM_011525902.1:c.3146+639T>C | XP_011524204.1:n.3146+639T>C | |
| XM_011525903.1:c.2958-6019T>C | XP_011524205.1:n.2958-6019T>C | |
| XM_011525904.1:c.3169T>C | XP_011524206.1:p.Ser1057Pro | |
| XM_011525905.1:c.3169T>C | XP_011524207.1:p.Ser1057Pro | |
| XM_011525906.1:c.1669T>C | XP_011524208.1:p.Ser557Pro | |
| XM_011525907.1:c.3169T>C | XP_011524209.1:p.Ser1057Pro | |
| XM_011525908.1:c.3169T>C | XP_011524210.1:p.Ser1057Pro | |
| XR_430072.2:n.3207T>C | ||
| XR_935213.1:n.3207T>C | ||
| NM_001318520.1:c.430T>C | NP_001305449.1:p.Ser144Pro | |
| XM_006722434.3:c.3169T>C | XP_006722497.1:p.Ser1057Pro | |
| XM_006722435.3:c.3169T>C | XP_006722498.1:p.Ser1057Pro | |
| XM_011525902.2:c.3146+639T>C | XP_011524204.1:n.3146+639T>C | |
| XM_011525903.2:c.2958-6019T>C | XP_011524205.1:n.2958-6019T>C | |
| XM_011525904.3:c.3169T>C | XP_011524206.1:p.Ser1057Pro | |
| XM_011525905.2:c.3169T>C | XP_011524207.1:p.Ser1057Pro | |
| XM_011525906.2:c.1669T>C | XP_011524208.1:p.Ser557Pro | |
| XM_011525907.2:c.3169T>C | XP_011524209.1:p.Ser1057Pro | |
| XM_011525908.3:c.3169T>C | XP_011524210.1:p.Ser1057Pro | |
| XM_017025693.1:c.3143+639T>C | XP_016881182.1:n.3143+639T>C | |
| XM_017025694.1:c.2527T>C | XP_016881183.1:p.Ser843Pro | |
| XM_017025695.1:c.2104T>C | XP_016881184.1:p.Ser702Pro | |
| XM_017025696.1:c.1060T>C | XP_016881185.1:p.Ser354Pro | |
| XM_024451139.1:c.2389T>C | XP_024306907.1:p.Ser797Pro | |
| XM_024451140.1:c.2389T>C | XP_024306908.1:p.Ser797Pro | |
| XR_430072.3:n.3237T>C | ||
| XR_935213.2:n.3237T>C | ||
| NM_001318520.2:c.430T>C | NP_001305449.1:p.Ser144Pro | |
| NM_173630.4:c.3166T>C MANE Select | NP_775901.3:p.Ser1056Pro |