Linked Data
dbSNP Id:
rs76180615
gnomAD v2:
2-242706988-C-T
gnomAD v3:
2-241767573-C-T
gnomAD v4:
2-241767573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767573C>T , CM000664.2:g.241767573C>T | GRCh38 |
| NC_000002.11:g.242706988C>T , CM000664.1:g.242706988C>T | GRCh37 |
| NC_000002.10:g.242355661C>T | NCBI36 |
| NG_012012.1:g.37959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1307-137C>T MANE Select | ENSP00000315351.4:n.1307-137C>T | |
| ENST00000321264.8:c.1307-137C>T | ENSP00000315351.4:n.1307-137C>T | |
| ENST00000400769.6:c.*57-137C>T | ENSP00000383580.2:n.*57-137C>T | |
| ENST00000403782.5:c.905-137C>T | ENSP00000384723.1:n.905-137C>T | |
| ENST00000436747.5:c.*2543-137C>T | ENSP00000400212.1:n.*2543-137C>T | |
| ENST00000445308.1:c.703-137C>T | ||
| ENST00000468064.5:n.1197-137C>T | ||
| ENST00000470343.5:n.788-137C>T | ||
| ENST00000473126.1:n.506-137C>T | ||
| ENST00000486953.5:n.1134-140C>T | ||
| ENST00000610344.1:c.*151-137C>T | ENSP00000481906.1:n.*151-137C>T | |
| NM_001287249.1:c.905-137C>T | NP_001274178.1:n.905-137C>T | |
| NM_152783.4:c.1307-137C>T | NP_689996.4:n.1307-137C>T | |
| NR_109778.1:n.1229-137C>T | ||
| XM_011511734.1:c.1427-137C>T | XP_011510036.1:n.1427-137C>T | |
| XM_011511735.1:c.1385-137C>T | XP_011510037.1:n.1385-137C>T | |
| XM_011511736.1:c.1349-137C>T | XP_011510038.1:n.1349-137C>T | |
| XM_011511744.1:c.*39-137C>T | XP_011510046.1:n.*39-137C>T | |
| XM_011511750.1:c.1219-137C>T | XP_011510052.1:n.1219-137C>T | |
| XM_011511754.1:c.866-137C>T | XP_011510056.1:n.866-137C>T | |
| XM_011511755.1:c.857-137C>T | XP_011510057.1:n.857-137C>T | |
| XM_011511756.1:c.854-137C>T | XP_011510058.1:n.854-137C>T | |
| XR_923004.1:n.1939-137C>T | ||
| XR_923007.1:n.1649-137C>T | ||
| XR_923011.1:n.1750-137C>T | ||
| NM_001352824.1:c.746-137C>T | NP_001339753.1:n.746-137C>T | |
| XM_011511734.2:c.1427-137C>T | XP_011510036.1:n.1427-137C>T | |
| XM_011511735.2:c.1385-137C>T | XP_011510037.1:n.1385-137C>T | |
| XM_011511736.2:c.1349-137C>T | XP_011510038.1:n.1349-137C>T | |
| XM_011511744.2:c.*39-137C>T | XP_011510046.1:n.*39-137C>T | |
| XM_011511750.3:c.1219-137C>T | XP_011510052.1:n.1219-137C>T | |
| XM_011511756.2:c.854-137C>T | XP_011510058.1:n.854-137C>T | |
| XM_024453102.1:c.1199-137C>T | XP_024308870.1:n.1199-137C>T | |
| XR_001738918.2:n.1681-137C>T | ||
| XR_001738919.2:n.1615-137C>T | ||
| XR_923004.3:n.1938-137C>T | ||
| XR_923007.3:n.1648-137C>T | ||
| XR_923011.3:n.1749-137C>T | ||
| NM_152783.5:c.1307-137C>T MANE Select | NP_689996.4:n.1307-137C>T | |
| NM_001287249.2:c.905-137C>T | NP_001274178.1:n.905-137C>T | |
| NM_001352824.2:c.746-137C>T | NP_001339753.1:n.746-137C>T | |
| NR_109778.2:n.1178-137C>T |