Linked Data
ClinVar Variation Id:
305842
dbSNP Id:
rs140296831
ExAC:
11:68696715 C / T
gnomAD v2:
11-68696715-C-T
gnomAD v3:
11-68929247-C-T
gnomAD v4:
11-68929247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68929247C>T , CM000673.2:g.68929247C>T | GRCh38 |
| NC_000011.9:g.68696715C>T , CM000673.1:g.68696715C>T | GRCh37 |
| NC_000011.8:g.68453291C>T | NCBI36 |
| NG_007976.1:g.30397C>T , LRG_250:g.30397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1125C>T MANE Select | ENSP00000255078.4:p.Asp375= | |
| ENST00000674698.1:n.65C>T | ||
| ENST00000674745.1:c.290C>T | ENSP00000502738.1:n.290C>T | |
| ENST00000674775.1:n.325C>T | ||
| ENST00000674955.1:c.1125C>T | ENSP00000502463.1:p.Asp375= | |
| ENST00000675118.1:c.613C>T | ||
| ENST00000675305.1:c.445C>T | ENSP00000502365.1:n.445C>T | |
| ENST00000675310.1:n.65C>T | ||
| ENST00000675493.1:n.286C>T | ||
| ENST00000675615.1:c.1125C>T | ENSP00000502413.1:p.Asp375= | |
| ENST00000675648.1:n.500C>T | ||
| ENST00000675684.1:c.252C>T | ENSP00000502192.1:p.Asp84= | |
| ENST00000675755.1:n.65C>T | ||
| ENST00000676083.1:n.65C>T | ||
| ENST00000676173.1:n.1169C>T | ||
| ENST00000676228.1:c.*448C>T | ENSP00000502375.1:n.*448C>T | |
| ENST00000676240.1:n.65C>T | ||
| ENST00000676400.1:n.65C>T | ||
| ENST00000255078.7:c.1125C>T | ENSP00000255078.3:p.Asp375= | |
| ENST00000568742.1:n.235C>T | ||
| NM_002180.2:c.1125C>T , LRG_250t1:c.1125C>T | NP_002171.2:p.Asp375= | |
| XM_005273974.2:c.114C>T | XP_005274031.1:p.Asp38= | |
| XM_005273976.1:c.1125C>T | XP_005274033.1:p.Asp375= | |
| XR_247198.1:n.1227C>T | ||
| XR_949903.1:n.1227C>T | ||
| XM_005273976.2:c.1125C>T | XP_005274033.1:p.Asp375= | |
| XM_017017669.2:c.114C>T | XP_016873158.1:p.Asp38= | |
| XM_017017670.2:c.114C>T | XP_016873159.1:p.Asp38= | |
| XM_017017671.2:c.1125C>T | XP_016873160.1:p.Asp375= | |
| XR_949903.3:n.1223C>T | ||
| NM_002180.3:c.1125C>T MANE Select | NP_002171.2:p.Asp375= |