Linked Data
dbSNP Id:
rs6583817
gnomAD v2:
10-94247247-C-T
gnomAD v3:
10-92487490-C-T
gnomAD v4:
10-92487490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92487490C>T , CM000672.2:g.92487490C>T | GRCh38 |
| NC_000010.10:g.94247247C>T , CM000672.1:g.94247247C>T | GRCh37 |
| NC_000010.9:g.94237227C>T | NCBI36 |
| NG_013012.1:g.91606G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650060.2:c.1534-172G>A | ENSP00000497272.1:n.1534-172G>A | |
| ENST00000265986.11:c.1534-172G>A MANE Select | ENSP00000265986.6:n.1534-172G>A | |
| ENST00000650060.1:c.1534-172G>A | ENSP00000497272.1:n.1534-172G>A | |
| ENST00000676540.1:c.1534-172G>A | ENSP00000504633.1:n.1534-172G>A | |
| ENST00000676626.1:n.2151-172G>A | ||
| ENST00000676816.1:c.1534-172G>A | ENSP00000504709.1:n.1534-172G>A | |
| ENST00000676987.1:n.362-172G>A | ||
| ENST00000677079.1:c.1534-172G>A | ENSP00000503417.1:n.1534-172G>A | |
| ENST00000677096.1:c.*1530-172G>A | ENSP00000503793.1:n.*1530-172G>A | |
| ENST00000677193.1:n.1231-172G>A | ||
| ENST00000677196.1:n.1611-172G>A | ||
| ENST00000677434.1:c.1534-172G>A | ENSP00000503274.1:n.1534-172G>A | |
| ENST00000677569.1:c.*86-172G>A | ENSP00000503462.1:n.*86-172G>A | |
| ENST00000677953.1:n.2057-172G>A | ||
| ENST00000677978.1:c.*86-172G>A | ENSP00000503310.1:n.*86-172G>A | |
| ENST00000678026.1:n.2151-172G>A | ||
| ENST00000678248.1:n.1611-172G>A | ||
| ENST00000678410.1:n.327-172G>A | ||
| ENST00000678458.1:n.1526-172G>A | ||
| ENST00000678673.1:c.1534-172G>A | ENSP00000503082.1:n.1534-172G>A | |
| ENST00000678715.1:c.1411-172G>A | ENSP00000503025.1:n.1411-172G>A | |
| ENST00000678824.1:c.-364-172G>A | ENSP00000503571.1:n.-364-172G>A | |
| ENST00000678844.1:c.1534-172G>A | ENSP00000504561.1:n.1534-172G>A | |
| ENST00000678977.1:n.3109-172G>A | ||
| ENST00000679069.1:n.1611-172G>A | ||
| ENST00000679089.1:c.1534-172G>A | ENSP00000504067.1:n.1534-172G>A | |
| ENST00000679174.1:c.*287-172G>A | ENSP00000504758.1:n.*287-172G>A | |
| ENST00000679222.1:c.*86-172G>A | ENSP00000504070.1:n.*86-172G>A | |
| ENST00000679232.1:c.*86-172G>A | ENSP00000503818.1:n.*86-172G>A | |
| ENST00000679304.1:n.1208-172G>A | ||
| ENST00000679312.1:c.1534-172G>A | ENSP00000504442.1:n.1534-172G>A | |
| ENST00000265986.10:c.1534-172G>A | ENSP00000265986.6:n.1534-172G>A | |
| ENST00000371581.9:c.-132-172G>A | ENSP00000360637.5:n.-132-172G>A | |
| ENST00000478361.6:c.*1744-172G>A | ENSP00000473506.1:n.*1744-172G>A | |
| ENST00000492362.1:n.182-172G>A | ||
| ENST00000496903.5:n.166-172G>A | ||
| NM_001165946.1:c.-132-172G>A | NP_001159418.1:n.-132-172G>A | |
| NM_004969.3:c.1534-172G>A | NP_004960.2:n.1534-172G>A | |
| XM_005269766.2:c.1534-172G>A | XP_005269823.1:n.1534-172G>A | |
| XM_005269769.3:c.1534-172G>A | XP_005269826.1:n.1534-172G>A | |
| XR_945727.1:n.1608-172G>A | ||
| NM_001322793.1:c.1534-172G>A | NP_001309722.1:n.1534-172G>A | |
| NM_001322794.1:c.1417-172G>A | NP_001309723.1:n.1417-172G>A | |
| NM_001322795.1:c.1411-172G>A | NP_001309724.1:n.1411-172G>A | |
| NM_001322796.1:c.1411-172G>A | NP_001309725.1:n.1411-172G>A | |
| NM_001322797.1:c.-132-172G>A | NP_001309726.1:n.-132-172G>A | |
| NR_136399.1:n.1610-172G>A | ||
| XM_017016187.1:c.1411-172G>A | XP_016871676.1:n.1411-172G>A | |
| XM_017016188.1:c.1411-172G>A | XP_016871677.1:n.1411-172G>A | |
| XM_017016189.1:c.1411-172G>A | XP_016871678.1:n.1411-172G>A | |
| XM_017016190.1:c.1411-172G>A | XP_016871679.1:n.1411-172G>A | |
| XR_001747103.2:n.1608-172G>A | ||
| XR_945727.3:n.1608-172G>A | ||
| NM_004969.4:c.1534-172G>A MANE Select | NP_004960.2:n.1534-172G>A | |
| NM_001165946.2:c.-132-172G>A | NP_001159418.1:n.-132-172G>A | |
| NM_001322793.2:c.1534-172G>A | NP_001309722.1:n.1534-172G>A | |
| NM_001322794.2:c.1417-172G>A | NP_001309723.1:n.1417-172G>A | |
| NM_001322795.2:c.1411-172G>A | NP_001309724.1:n.1411-172G>A | |
| NM_001322797.2:c.-132-172G>A | NP_001309726.1:n.-132-172G>A | |
| NR_136399.2:n.1608-172G>A |