Linked Data
dbSNP Id:
rs10521792
gnomAD v2:
X-138117409-A-G
gnomAD v3:
X-139035247-A-G
gnomAD v4:
X-139035247-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139035247A>G , CM000685.2:g.139035247A>G | GRCh38 |
| NC_000023.10:g.138117409A>G , CM000685.1:g.138117409A>G | GRCh37 |
| NC_000023.9:g.137945075A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436198.6:c.49+168812T>C | ENSP00000396198.2:n.49+168812T>C | |
| ENST00000441825.8:c.-148-44630T>C | ENSP00000409276.2:n.-148-44630T>C | |
| ENST00000421460.1:c.-113+168169T>C | ENSP00000388688.1:n.-113+168169T>C | |
| ENST00000436198.5:c.49+168812T>C | ENSP00000396198.2:n.49+168812T>C | |
| ENST00000448673.1:c.49+168812T>C | ENSP00000411999.1:n.49+168812T>C | |
| ENST00000626909.2:c.49+168812T>C | ENSP00000487411.1:n.49+168812T>C | |
| NM_001139498.1:c.49+168812T>C | NP_001132970.1:n.49+168812T>C | |
| NM_001139500.1:c.49+168812T>C | NP_001132972.1:n.49+168812T>C | |
| NM_001139501.1:c.-148-44630T>C | NP_001132973.1:n.-148-44630T>C | |
| XM_005262399.1:c.49+168812T>C | XP_005262456.1:n.49+168812T>C | |
| XM_011531315.1:c.82+168169T>C | XP_011529617.1:n.82+168169T>C | |
| XM_024452352.1:c.82+168169T>C | XP_024308120.1:n.82+168169T>C | |
| NM_001139498.2:c.49+168812T>C | NP_001132970.1:n.49+168812T>C | |
| NM_001139500.2:c.49+168812T>C | NP_001132972.1:n.49+168812T>C | |
| NM_001139501.2:c.-148-44630T>C | NP_001132973.1:n.-148-44630T>C |