Linked Data
dbSNP Id:
rs781777103
ExAC:
10:96058385 T / C
gnomAD v2:
10-96058385-T-C
gnomAD v4:
10-94298628-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298628T>C , CM000672.2:g.94298628T>C | GRCh38 |
| NC_000010.10:g.96058385T>C , CM000672.1:g.96058385T>C | GRCh37 |
| NC_000010.9:g.96048375T>C | NCBI36 |
| NG_015799.1:g.309640T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4493T>C | ENSP00000360426.1:p.Leu1498Pro | |
| ENST00000685253.1:c.*1960T>C | ENSP00000509405.1:n.*1960T>C | |
| ENST00000685889.1:n.2152T>C | ||
| ENST00000686807.1:n.836T>C | ||
| ENST00000686954.1:c.*701T>C | ENSP00000508416.1:n.*701T>C | |
| ENST00000688810.1:c.4445T>C | ENSP00000509140.1:p.Leu1482Pro | |
| ENST00000689233.1:n.9625T>C | ||
| ENST00000690340.1:n.3090T>C | ||
| ENST00000692286.1:c.5285T>C | ENSP00000509490.1:p.Leu1762Pro | |
| ENST00000692396.1:c.5369T>C | ENSP00000508605.1:p.Leu1790Pro | |
| ENST00000371380.8:c.5417T>C MANE Select | ENSP00000360431.2:p.Leu1806Pro | |
| ENST00000371385.8:c.4391T>C | ENSP00000360438.4:p.Leu1464Pro | |
| ENST00000674738.1:c.3972T>C | ||
| ENST00000674827.1:c.3533T>C | ENSP00000502523.1:p.Leu1178Pro | |
| ENST00000675218.1:c.4493T>C | ENSP00000501910.1:p.Leu1498Pro | |
| ENST00000675487.1:c.*1350T>C | ENSP00000502340.1:n.*1350T>C | |
| ENST00000675718.1:c.4686T>C | ||
| ENST00000260766.7:c.5417T>C | ENSP00000260766.3:p.Leu1806Pro | |
| ENST00000371375.1:c.4493T>C | ENSP00000360426.1:p.Leu1498Pro | |
| ENST00000371380.7:c.5417T>C | ENSP00000360431.2:p.Leu1806Pro | |
| ENST00000371385.7:c.4493T>C | ENSP00000360438.3:p.Leu1498Pro | |
| NM_001165979.2:c.4493T>C | NP_001159451.1:p.Leu1498Pro | |
| NM_001288989.1:c.5369T>C | NP_001275918.1:p.Leu1790Pro | |
| NM_016341.3:c.5417T>C | NP_057425.3:p.Leu1806Pro | |
| XM_006717885.2:c.5459T>C | XP_006717948.1:p.Leu1820Pro | |
| XM_006717886.2:c.5459T>C | XP_006717949.1:p.Leu1820Pro | |
| XM_006717888.2:c.5456T>C | XP_006717951.1:p.Leu1819Pro | |
| XM_006717889.2:c.5411T>C | XP_006717952.1:p.Leu1804Pro | |
| XM_006717890.1:c.4535T>C | XP_006717953.1:p.Leu1512Pro | |
| XM_011539849.1:c.5459T>C | XP_011538151.1:p.Leu1820Pro | |
| XM_011539850.1:c.4304T>C | XP_011538152.1:p.Leu1435Pro | |
| XM_006717885.4:c.5459T>C | XP_006717948.1:p.Leu1820Pro | |
| XM_006717888.4:c.5456T>C | XP_006717951.1:p.Leu1819Pro | |
| XM_006717889.4:c.5411T>C | XP_006717952.1:p.Leu1804Pro | |
| XM_006717890.3:c.4535T>C | XP_006717953.1:p.Leu1512Pro | |
| XM_011539849.3:c.5459T>C | XP_011538151.1:p.Leu1820Pro | |
| XM_011539850.3:c.4304T>C | XP_011538152.1:p.Leu1435Pro | |
| XM_017016310.2:c.5459T>C | XP_016871799.1:p.Leu1820Pro | |
| XM_017016311.2:c.5459T>C | XP_016871800.1:p.Leu1820Pro | |
| XM_017016312.2:c.4445T>C | XP_016871801.1:p.Leu1482Pro | |
| NM_001288989.2:c.5369T>C | NP_001275918.1:p.Leu1790Pro | |
| NM_016341.4:c.5417T>C MANE Select | NP_057425.3:p.Leu1806Pro |