Linked Data
ClinVar Variation Id:
901
ClinVar RCV Id:
RCV000000949
dbSNP Id:
rs377519272
ExAC:
7:65432754 G / A
gnomAD v2:
7-65432754-G-A
gnomAD v3:
7-65967767-G-A
gnomAD v4:
7-65967767-G-A
PubMed:
PMID:7633414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65967767G>A , CM000669.2:g.65967767G>A | GRCh38 |
| NC_000007.13:g.65432754G>A , CM000669.1:g.65432754G>A | GRCh37 |
| NC_000007.12:g.65070189G>A | NCBI36 |
| NG_016197.1:g.19548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1617C>T MANE Select | ENSP00000302728.4:p.Ser539= | |
| ENST00000304895.8:c.1617C>T | ENSP00000302728.4:p.Ser539= | |
| ENST00000421103.5:c.1179C>T | ENSP00000391390.1:p.Ser393= | |
| ENST00000430730.5:c.*884C>T | ENSP00000411859.1:n.*884C>T | |
| ENST00000447929.5:c.*997C>T | ENSP00000411262.1:n.*997C>T | |
| ENST00000461622.1:n.142C>T | ||
| ENST00000462371.1:n.655C>T | ||
| ENST00000466883.5:n.2007C>T | ||
| NM_000181.3:c.1617C>T | NP_000172.2:p.Ser539= | |
| NM_001284290.1:c.1179C>T | NP_001271219.1:p.Ser393= | |
| NM_001293104.1:c.1047C>T | NP_001280033.1:p.Ser349= | |
| NM_001293105.1:c.960C>T | NP_001280034.1:p.Ser320= | |
| NR_120531.1:n.1663C>T | ||
| XM_005250297.3:c.1464C>T | XP_005250354.1:p.Ser488= | |
| XM_011516113.1:c.1116C>T | XP_011514415.1:p.Ser372= | |
| XM_011516114.1:c.945C>T | XP_011514416.1:p.Ser315= | |
| XR_927461.1:n.1703C>T | ||
| XM_005250297.4:c.1464C>T | XP_005250354.1:p.Ser488= | |
| XM_011516114.2:c.945C>T | XP_011514416.1:p.Ser315= | |
| XM_017012091.1:c.963C>T | XP_016867580.1:p.Ser321= | |
| XM_017012092.1:c.894C>T | XP_016867581.1:p.Ser298= | |
| XM_017012093.2:c.792C>T | XP_016867582.1:p.Ser264= | |
| XR_001744658.2:n.1424C>T | ||
| XR_001744659.2:n.1537C>T | ||
| XR_001744660.2:n.1469C>T | ||
| XR_001744661.2:n.1384C>T | ||
| XR_927461.3:n.1622C>T | ||
| NM_000181.4:c.1617C>T MANE Select | NP_000172.2:p.Ser539= | |
| NM_001284290.2:c.1179C>T | NP_001271219.1:p.Ser393= | |
| NM_001293104.2:c.1047C>T | NP_001280033.1:p.Ser349= | |
| NM_001293105.2:c.960C>T | NP_001280034.1:p.Ser320= | |
| NR_120531.2:n.1562C>T |