Linked Data
ClinVar Variation Id:
474069
dbSNP Id:
rs142714242
ExAC:
X:73960837 C / A
gnomAD v2:
X-73960837-C-A
gnomAD v3:
X-74741002-C-A
gnomAD v4:
X-74741002-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74741002C>A , CM000685.2:g.74741002C>A | GRCh38 |
| NC_000023.10:g.73960837C>A , CM000685.1:g.73960837C>A | GRCh37 |
| NC_000023.9:g.73877562C>A | NCBI36 |
| NG_027726.1:g.189451G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000055682.12:c.3555G>T MANE Select | ENSP00000055682.5:p.Gly1185= | |
| ENST00000616200.2:c.3555G>T | ENSP00000480284.1:p.Gly1185= | |
| ENST00000642681.2:c.3555G>T | ENSP00000495800.1:p.Gly1185= | |
| ENST00000055682.10:c.3555G>T | ENSP00000055682.5:p.Gly1185= | |
| ENST00000616200.1:c.3555G>T | ENSP00000480284.1:p.Gly1185= | |
| NM_001008537.2:c.3555G>T | NP_001008537.1:p.Gly1185= | |
| XM_011530935.1:c.3555G>T | XP_011529237.1:p.Gly1185= | |
| NM_001008537.3:c.3555G>T MANE Select | NP_001008537.1:p.Gly1185= |