Linked Data
dbSNP Id:
rs782589687
ExAC:
X:153581351 T / G
gnomAD v2:
X-153581351-T-G
gnomAD v4:
X-154352983-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352983T>G , CM000685.2:g.154352983T>G | GRCh38 |
| NC_000023.10:g.153581351T>G , CM000685.1:g.153581351T>G | GRCh37 |
| NC_000023.9:g.153234545T>G | NCBI36 |
| NG_011506.1:g.26656A>C | |
| NG_011506.2:g.26656A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6202+18A>C | ENSP00000353467.4:n.6202+18A>C | |
| ENST00000369850.10:c.6226+18A>C MANE Select | ENSP00000358866.3:n.6226+18A>C | |
| ENST00000369856.8:c.6145+18A>C | ENSP00000358872.4:n.6145+18A>C | |
| ENST00000422373.6:c.3161-308A>C | ENSP00000416926.2:n.3161-308A>C | |
| ENST00000610817.5:c.6283+18A>C | ENSP00000480593.2:n.6283+18A>C | |
| ENST00000673639.2:c.280-4293A>C | ||
| ENST00000676696.1:c.6505+18A>C | ENSP00000503392.1:n.6505+18A>C | |
| ENST00000678304.1:n.1405+18A>C | ||
| ENST00000344736.8:c.6106+18A>C | ENSP00000358863.3:n.6106+18A>C | |
| ENST00000360319.8:c.6202+18A>C | ENSP00000353467.4:n.6202+18A>C | |
| ENST00000369850.7:c.6226+18A>C | ENSP00000358866.3:n.6226+18A>C | |
| ENST00000369856.7:c.6145+18A>C | ENSP00000358872.4:n.6145+18A>C | |
| ENST00000415241.1:c.428+18A>C | ||
| ENST00000420627.5:c.6182+18A>C | ENSP00000408921.1:n.6182+18A>C | |
| ENST00000422373.5:c.6202+18A>C | ENSP00000416926.1:n.6202+18A>C | |
| ENST00000444578.1:c.169+18A>C | ENSP00000397824.1:n.169+18A>C | |
| ENST00000466325.1:n.383A>C | ||
| ENST00000490936.5:n.2215+18A>C | ||
| ENST00000610817.4:c.5844+410A>C | ENSP00000480593.1:n.5844+410A>C | |
| NM_001110556.1:c.6226+18A>C | NP_001104026.1:n.6226+18A>C | |
| NM_001456.3:c.6202+18A>C | NP_001447.2:n.6202+18A>C | |
| XM_011531127.1:c.6130+18A>C | XP_011529429.1:n.6130+18A>C | |
| XM_011531128.1:c.6106+18A>C | XP_011529430.1:n.6106+18A>C | |
| XM_011531129.1:c.6052+18A>C | XP_011529431.1:n.6052+18A>C | |
| XM_011531130.1:c.6028+18A>C | XP_011529432.1:n.6028+18A>C | |
| XM_011531131.1:c.6025+18A>C | XP_011529433.1:n.6025+18A>C | |
| NM_001110556.2:c.6226+18A>C MANE Select | NP_001104026.1:n.6226+18A>C | |
| NM_001456.4:c.6202+18A>C | NP_001447.2:n.6202+18A>C |