Linked Data
dbSNP Id:
rs938740903
gnomAD v2:
X-153579014-C-G
gnomAD v3:
X-154350646-C-G
gnomAD v4:
X-154350646-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350646C>G , CM000685.2:g.154350646C>G | GRCh38 |
| NC_000023.10:g.153579014C>G , CM000685.1:g.153579014C>G | GRCh37 |
| NC_000023.9:g.153232208C>G | NCBI36 |
| NG_011506.1:g.28993G>C | |
| NG_011506.2:g.28993G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7132+263G>C | ENSP00000353467.4:n.7132+263G>C | |
| ENST00000369850.10:c.7156+263G>C MANE Select | ENSP00000358866.3:n.7156+263G>C | |
| ENST00000369856.8:c.7075+263G>C | ENSP00000358872.4:n.7075+263G>C | |
| ENST00000422373.6:c.3937+263G>C | ENSP00000416926.2:n.3937+263G>C | |
| ENST00000610817.5:c.7213+263G>C | ENSP00000480593.2:n.7213+263G>C | |
| ENST00000673639.2:c.280-1956G>C | ||
| ENST00000676696.1:c.7435+263G>C | ENSP00000503392.1:n.7435+263G>C | |
| ENST00000678304.1:n.2874+263G>C | ||
| ENST00000344736.8:c.7036+263G>C | ENSP00000358863.3:n.7036+263G>C | |
| ENST00000360319.8:c.7132+263G>C | ENSP00000353467.4:n.7132+263G>C | |
| ENST00000369850.7:c.7156+263G>C | ENSP00000358866.3:n.7156+263G>C | |
| ENST00000369856.7:c.7075+263G>C | ENSP00000358872.4:n.7075+263G>C | |
| ENST00000420627.5:c.7112+263G>C | ENSP00000408921.1:n.7112+263G>C | |
| ENST00000422373.5:c.7132+263G>C | ENSP00000416926.1:n.7132+263G>C | |
| ENST00000490936.5:n.3947G>C | ||
| ENST00000498411.1:n.68-1816G>C | ||
| ENST00000498491.5:n.197+263G>C | ||
| ENST00000610817.4:c.6160+263G>C | ENSP00000480593.1:n.6160+263G>C | |
| NM_001110556.1:c.7156+263G>C | NP_001104026.1:n.7156+263G>C | |
| NM_001456.3:c.7132+263G>C | NP_001447.2:n.7132+263G>C | |
| XM_011531127.1:c.7060+263G>C | XP_011529429.1:n.7060+263G>C | |
| XM_011531128.1:c.7036+263G>C | XP_011529430.1:n.7036+263G>C | |
| XM_011531129.1:c.6982+263G>C | XP_011529431.1:n.6982+263G>C | |
| XM_011531130.1:c.6958+263G>C | XP_011529432.1:n.6958+263G>C | |
| XM_011531131.1:c.6955+263G>C | XP_011529433.1:n.6955+263G>C | |
| NM_001110556.2:c.7156+263G>C MANE Select | NP_001104026.1:n.7156+263G>C | |
| NM_001456.4:c.7132+263G>C | NP_001447.2:n.7132+263G>C |