Linked Data
dbSNP Id:
rs182749376
ExAC:
X:29417442 A / G
gnomAD v2:
X-29417442-A-G
gnomAD v3:
X-29399325-A-G
gnomAD v4:
X-29399325-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399325A>G , CM000685.2:g.29399325A>G | GRCh38 |
| NC_000023.10:g.29417442A>G , CM000685.1:g.29417442A>G | GRCh37 |
| NC_000023.9:g.29327363A>G | NCBI36 |
| NG_008292.1:g.816762A>G | |
| NG_008292.2:g.816762A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.703+17A>G MANE Select | ENSP00000368278.1:n.703+17A>G | |
| ENST00000378993.5:c.703+17A>G | ENSP00000368278.1:n.703+17A>G | |
| NM_014271.3:c.703+17A>G | NP_055086.1:n.703+17A>G | |
| XM_005274441.1:c.703+17A>G | XP_005274498.1:n.703+17A>G | |
| XM_011545445.1:c.703+17A>G | XP_011543747.1:n.703+17A>G | |
| XM_017029240.1:c.703+17A>G | XP_016884729.1:n.703+17A>G | |
| XM_017029241.1:c.325+17A>G | XP_016884730.1:n.325+17A>G | |
| NM_014271.4:c.703+17A>G MANE Select | NP_055086.1:n.703+17A>G |