Linked Data
dbSNP Id:
rs762451630
ExAC:
3:49064310 G / A
gnomAD v2:
3-49064310-G-A
gnomAD v4:
3-49026877-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026877G>A , CM000665.2:g.49026877G>A | GRCh38 |
| NC_000003.11:g.49064310G>A , CM000665.1:g.49064310G>A | GRCh37 |
| NC_000003.10:g.49039314G>A | NCBI36 |
| NG_012091.1:g.7566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2669C>T | ENSP00000515567.1:p.Pro890Leu | |
| ENST00000703937.1:c.*1730C>T | ENSP00000515568.1:n.*1730C>T | |
| ENST00000326739.9:c.629C>T MANE Select | ENSP00000321584.4:p.Pro210Leu | |
| ENST00000429182.6:c.629C>T | ENSP00000393525.2:p.Pro210Leu | |
| ENST00000442157.2:c.554C>T | ENSP00000403502.2:p.Pro185Leu | |
| ENST00000462980.2:n.1144C>T | ||
| ENST00000472328.2:n.695C>T | ||
| ENST00000491610.2:n.589C>T | ||
| ENST00000676607.1:n.925C>T | ||
| ENST00000676627.1:n.1359C>T | ||
| ENST00000676708.1:n.1909C>T | ||
| ENST00000676864.1:n.1778C>T | ||
| ENST00000677010.1:c.665C>T | ENSP00000503089.1:p.Pro222Leu | |
| ENST00000677108.1:n.2535C>T | ||
| ENST00000677168.1:n.1101C>T | ||
| ENST00000677185.1:n.1192C>T | ||
| ENST00000677205.1:n.1413C>T | ||
| ENST00000677344.1:n.1903C>T | ||
| ENST00000677480.1:c.*306C>T | ENSP00000504378.1:n.*306C>T | |
| ENST00000677519.1:n.1339C>T | ||
| ENST00000677593.1:n.1185C>T | ||
| ENST00000677740.1:n.2134C>T | ||
| ENST00000677991.1:n.1802C>T | ||
| ENST00000678001.1:n.1122C>T | ||
| ENST00000678085.1:n.1185C>T | ||
| ENST00000678177.1:n.2478C>T | ||
| ENST00000678603.1:n.1707C>T | ||
| ENST00000678724.1:c.554C>T | ENSP00000503874.1:p.Pro185Leu | |
| ENST00000678920.1:n.787C>T | ||
| ENST00000679019.1:n.1399C>T | ||
| ENST00000679117.1:c.*444C>T | ENSP00000503240.1:n.*444C>T | |
| ENST00000679339.1:n.1470C>T | ||
| ENST00000326739.8:c.629C>T | ENSP00000321584.4:p.Pro210Leu | |
| ENST00000429182.5:c.423C>T | ||
| ENST00000442157.1:c.554C>T | ENSP00000403502.1:p.Pro185Leu | |
| ENST00000462980.1:n.531C>T | ||
| ENST00000491610.1:n.589C>T | ||
| NM_000884.2:c.629C>T | NP_000875.2:p.Pro210Leu | |
| XM_006713128.2:c.839C>T | XP_006713191.1:p.Pro280Leu | |
| XM_006713128.3:c.839C>T | XP_006713191.1:p.Pro280Leu | |
| XM_017006349.1:c.764C>T | XP_016861838.1:p.Pro255Leu | |
| XM_017006350.1:c.764C>T | XP_016861839.1:p.Pro255Leu | |
| NM_000884.3:c.629C>T MANE Select | NP_000875.2:p.Pro210Leu |