Linked Data
dbSNP Id:
rs1391315040
gnomAD v2:
1-236992376-T-C
gnomAD v3:
1-236829076-T-C
gnomAD v4:
1-236829076-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236829076T>C , CM000663.2:g.236829076T>C | GRCh38 |
| NC_000001.10:g.236992376T>C , CM000663.1:g.236992376T>C | GRCh37 |
| NC_000001.9:g.235058999T>C | NCBI36 |
| NG_008959.1:g.38796T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.996-113T>C MANE Select | ENSP00000355536.5:n.996-113T>C | |
| ENST00000535889.6:c.996-113T>C | ENSP00000441845.1:n.996-113T>C | |
| ENST00000650888.1:c.*38-113T>C | ENSP00000498393.1:n.*38-113T>C | |
| ENST00000651455.1:c.996-113T>C | ENSP00000498963.1:n.996-113T>C | |
| ENST00000674797.2:c.648-113T>C | ENSP00000502299.2:n.648-113T>C | |
| ENST00000679569.1:n.1310-113T>C | ||
| ENST00000679842.1:c.996-113T>C | ENSP00000506109.1:n.996-113T>C | |
| ENST00000680454.1:n.1440-113T>C | ||
| ENST00000681102.1:c.996-113T>C | ENSP00000505600.1:n.996-113T>C | |
| ENST00000681177.1:c.996-113T>C | ENSP00000506327.1:n.996-113T>C | |
| ENST00000681937.1:n.1628-113T>C | ||
| ENST00000366577.9:c.996-113T>C | ENSP00000355536.5:n.996-113T>C | |
| ENST00000463959.1:n.1015-113T>C | ||
| ENST00000535889.5:c.996-113T>C | ENSP00000441845.1:n.996-113T>C | |
| NM_000254.2:c.996-113T>C | NP_000245.2:n.996-113T>C | |
| NM_001291939.1:c.996-113T>C | NP_001278868.1:n.996-113T>C | |
| NM_001291940.1:c.-113-113T>C | NP_001278869.1:n.-113-113T>C | |
| XM_005273141.3:c.993-113T>C | XP_005273198.1:n.993-113T>C | |
| XM_006711769.2:c.996-113T>C | XP_006711832.1:n.996-113T>C | |
| XM_006711770.1:c.60-113T>C | XP_006711833.1:n.60-113T>C | |
| XM_011544193.1:c.996-113T>C | XP_011542495.1:n.996-113T>C | |
| XM_011544194.1:c.1164-113T>C | XP_011542496.1:n.1164-113T>C | |
| XM_005273141.5:c.993-113T>C | XP_005273198.1:n.993-113T>C | |
| XM_006711770.3:c.60-113T>C | XP_006711833.1:n.60-113T>C | |
| XM_011544194.3:c.1164-113T>C | XP_011542496.1:n.1164-113T>C | |
| XM_017001329.2:c.1164-113T>C | XP_016856818.1:n.1164-113T>C | |
| XM_017001330.2:c.1164-113T>C | XP_016856819.1:n.1164-113T>C | |
| NM_001291940.2:c.-113-113T>C | NP_001278869.1:n.-113-113T>C | |
| NM_000254.3:c.996-113T>C MANE Select | NP_000245.2:n.996-113T>C |