Linked Data
ClinVar Variation Id:
911767
ClinVar RCV Id:
RCV001164418
dbSNP Id:
rs1790444883
gnomAD v4:
7-65960941-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960941A>G , CM000669.2:g.65960941A>G | GRCh38 |
| NC_000007.13:g.65425928A>G , CM000669.1:g.65425928A>G | GRCh37 |
| NC_000007.12:g.65063363A>G | NCBI36 |
| NG_016197.1:g.26374T>C | |
| NG_051954.1:g.92843A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1912T>C MANE Select | ENSP00000302728.4:p.Ser638Pro | |
| ENST00000304895.8:c.1912T>C | ENSP00000302728.4:p.Ser638Pro | |
| ENST00000421103.5:c.1474T>C | ENSP00000391390.1:p.Ser492Pro | |
| ENST00000430730.5:c.*1179T>C | ENSP00000411859.1:n.*1179T>C | |
| ENST00000447929.5:c.*1292T>C | ENSP00000411262.1:n.*1292T>C | |
| ENST00000466883.5:n.2302T>C | ||
| NM_000181.3:c.1912T>C | NP_000172.2:p.Ser638Pro | |
| NM_001284290.1:c.1474T>C | NP_001271219.1:p.Ser492Pro | |
| NM_001293104.1:c.1342T>C | NP_001280033.1:p.Ser448Pro | |
| NM_001293105.1:c.1255T>C | NP_001280034.1:p.Ser419Pro | |
| NR_120531.1:n.1958T>C | ||
| XM_005250297.3:c.1759T>C | XP_005250354.1:p.Ser587Pro | |
| XM_011516113.1:c.1411T>C | XP_011514415.1:p.Ser471Pro | |
| XM_011516114.1:c.1240T>C | XP_011514416.1:p.Ser414Pro | |
| XM_005250297.4:c.1759T>C | XP_005250354.1:p.Ser587Pro | |
| XM_011516114.2:c.1240T>C | XP_011514416.1:p.Ser414Pro | |
| XM_017012091.1:c.1258T>C | XP_016867580.1:p.Ser420Pro | |
| XM_017012092.1:c.1189T>C | XP_016867581.1:p.Ser397Pro | |
| XM_017012093.2:c.1087T>C | XP_016867582.1:p.Ser363Pro | |
| XR_001744658.2:n.1719T>C | ||
| XR_001744659.2:n.1832T>C | ||
| XR_001744660.2:n.1764T>C | ||
| XR_001744661.2:n.1679T>C | ||
| XR_927461.3:n.1917T>C | ||
| NM_000181.4:c.1912T>C MANE Select | NP_000172.2:p.Ser638Pro | |
| NM_001284290.2:c.1474T>C | NP_001271219.1:p.Ser492Pro | |
| NM_001293104.2:c.1342T>C | NP_001280033.1:p.Ser448Pro | |
| NM_001293105.2:c.1255T>C | NP_001280034.1:p.Ser419Pro | |
| NR_120531.2:n.1857T>C |