Linked Data
ClinVar Variation Id:
197428
dbSNP Id:
rs797044739
gnomAD v2:
X-153580288-C-T
gnomAD v3:
X-154351920-C-T
gnomAD v4:
X-154351920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351920C>T , CM000685.2:g.154351920C>T | GRCh38 |
| NC_000023.10:g.153580288C>T , CM000685.1:g.153580288C>T | GRCh37 |
| NC_000023.9:g.153233482C>T | NCBI36 |
| NG_011506.1:g.27719G>A | |
| NG_011506.2:g.27719G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6847G>A | ENSP00000353467.4:p.Gly2283Ser | |
| ENST00000369850.10:c.6871G>A MANE Select | ENSP00000358866.3:p.Gly2291Ser | |
| ENST00000369856.8:c.6790G>A | ENSP00000358872.4:p.Gly2264Ser | |
| ENST00000422373.6:c.3652G>A | ENSP00000416926.2:p.Gly1218Ser | |
| ENST00000610817.5:c.6928G>A | ENSP00000480593.2:n.6928G>A | |
| ENST00000673639.2:c.280-3230G>A | ||
| ENST00000676696.1:c.7150G>A | ENSP00000503392.1:n.7150G>A | |
| ENST00000678304.1:n.2050G>A | ||
| ENST00000344736.8:c.6751G>A | ENSP00000358863.3:p.Gly2251Ser | |
| ENST00000360319.8:c.6847G>A | ENSP00000353467.4:p.Gly2283Ser | |
| ENST00000369850.7:c.6871G>A | ENSP00000358866.3:p.Gly2291Ser | |
| ENST00000369856.7:c.6790G>A | ENSP00000358872.4:p.Gly2264Ser | |
| ENST00000420627.5:c.6827G>A | ENSP00000408921.1:n.6827G>A | |
| ENST00000422373.5:c.6847G>A | ENSP00000416926.1:p.Gly2283Ser | |
| ENST00000444578.1:c.691G>A | ENSP00000397824.1:p.Gly231Ser | |
| ENST00000474358.5:n.504G>A | ||
| ENST00000490936.5:n.2860G>A | ||
| ENST00000498411.1:n.67+897G>A | ||
| ENST00000610817.4:c.5875G>A | ENSP00000480593.1:p.Gly1959Ser | |
| NM_001110556.1:c.6871G>A | NP_001104026.1:p.Gly2291Ser | |
| NM_001456.3:c.6847G>A | NP_001447.2:p.Gly2283Ser | |
| XM_011531127.1:c.6775G>A | XP_011529429.1:p.Gly2259Ser | |
| XM_011531128.1:c.6751G>A | XP_011529430.1:p.Gly2251Ser | |
| XM_011531129.1:c.6697G>A | XP_011529431.1:p.Gly2233Ser | |
| XM_011531130.1:c.6673G>A | XP_011529432.1:p.Gly2225Ser | |
| XM_011531131.1:c.6670G>A | XP_011529433.1:p.Gly2224Ser | |
| NM_001110556.2:c.6871G>A MANE Select | NP_001104026.1:p.Gly2291Ser | |
| NM_001456.4:c.6847G>A | NP_001447.2:p.Gly2283Ser |