Linked Data
ClinVar Variation Id:
1033903
dbSNP Id:
rs746910953
ExAC:
11:68682306 C / T
gnomAD v2:
11-68682306-C-T
gnomAD v3:
11-68914838-C-T
gnomAD v4:
11-68914838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914838C>T , CM000673.2:g.68914838C>T | GRCh38 |
| NC_000011.9:g.68682306C>T , CM000673.1:g.68682306C>T | GRCh37 |
| NC_000011.8:g.68438882C>T | NCBI36 |
| NG_007976.1:g.15988C>T , LRG_250:g.15988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.727C>T MANE Select | ENSP00000255078.4:p.Pro243Ser | |
| ENST00000539224.2:c.856C>T | ||
| ENST00000674955.1:c.727C>T | ENSP00000502463.1:p.Pro243Ser | |
| ENST00000675118.1:c.74C>T | ||
| ENST00000675119.1:c.16C>T | ENSP00000501861.1:p.Pro6Ser | |
| ENST00000675305.1:c.16C>T | ENSP00000502365.1:p.Pro6Ser | |
| ENST00000675464.1:c.16C>T | ENSP00000502650.1:p.Pro6Ser | |
| ENST00000675615.1:c.727C>T | ENSP00000502413.1:p.Pro243Ser | |
| ENST00000675683.1:c.114C>T | ||
| ENST00000676173.1:n.771C>T | ||
| ENST00000676228.1:c.*50C>T | ENSP00000502375.1:n.*50C>T | |
| ENST00000676239.1:n.41C>T | ||
| ENST00000255078.7:c.727C>T | ENSP00000255078.3:p.Pro243Ser | |
| ENST00000539224.1:c.*50C>T | ENSP00000440465.1:n.*50C>T | |
| NM_002180.2:c.727C>T , LRG_250t1:c.727C>T | NP_002171.2:p.Pro243Ser | |
| XM_005273974.2:c.-285C>T | XP_005274031.1:n.-285C>T | |
| XM_005273976.1:c.727C>T | XP_005274033.1:p.Pro243Ser | |
| XR_247198.1:n.829C>T | ||
| XR_949903.1:n.829C>T | ||
| XM_005273976.2:c.727C>T | XP_005274033.1:p.Pro243Ser | |
| XM_017017669.2:c.-285C>T | XP_016873158.1:n.-285C>T | |
| XM_017017670.2:c.-285C>T | XP_016873159.1:n.-285C>T | |
| XM_017017671.2:c.727C>T | XP_016873160.1:p.Pro243Ser | |
| XR_949903.3:n.825C>T | ||
| NM_002180.3:c.727C>T MANE Select | NP_002171.2:p.Pro243Ser |