Linked Data
dbSNP Id:
rs1938526
gnomAD v2:
10-62300383-A-G
gnomAD v3:
10-60540625-A-G
gnomAD v4:
10-60540625-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60540625A>G , CM000672.2:g.60540625A>G | GRCh38 |
| NC_000010.10:g.62300383A>G , CM000672.1:g.62300383A>G | GRCh37 |
| NC_000010.9:g.61970389A>G | NCBI36 |
| NG_029917.1:g.197902T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503366.6:c.63+31840T>C | ENSP00000425236.1:n.63+31840T>C | |
| ENST00000373827.6:c.96+74561T>C | ENSP00000362933.2:n.96+74561T>C | |
| ENST00000503366.5:c.63+31840T>C | ENSP00000425236.1:n.63+31840T>C | |
| ENST00000510382.1:n.102-32000T>C | ||
| ENST00000622427.4:c.63+31840T>C | ENSP00000483244.1:n.63+31840T>C | |
| NM_001204403.1:c.96+74561T>C | NP_001191332.1:n.96+74561T>C | |
| NM_001204404.1:c.63+31840T>C | NP_001191333.1:n.63+31840T>C | |
| XM_011539700.1:c.102+74561T>C | XP_011538002.1:n.102+74561T>C | |
| XM_011539701.1:c.96+74561T>C | XP_011538003.1:n.96+74561T>C | |
| XM_011539702.1:c.57+192638T>C | XP_011538004.1:n.57+192638T>C | |
| XM_017016114.1:c.63+31840T>C | XP_016871603.1:n.63+31840T>C | |
| XM_024447958.1:c.63+31840T>C | XP_024303726.1:n.63+31840T>C | |
| NM_001204403.2:c.96+74561T>C | NP_001191332.1:n.96+74561T>C | |
| NM_001204404.2:c.63+31840T>C | NP_001191333.1:n.63+31840T>C |