Linked Data
ClinVar Variation Id:
943788
dbSNP Id:
rs774830136
ExAC:
X:41333772 C / T
gnomAD v2:
X-41333772-C-T
gnomAD v3:
X-41474519-C-T
gnomAD v4:
X-41474519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474519C>T , CM000685.2:g.41474519C>T | GRCh38 |
| NC_000023.10:g.41333772C>T , CM000685.1:g.41333772C>T | GRCh37 |
| NC_000023.9:g.41218716C>T | NCBI36 |
| NG_009112.1:g.32060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1051C>T | ENSP00000340328.3:p.Arg351Cys | |
| ENST00000378220.3:c.1051C>T MANE Select | ENSP00000367465.2:p.Arg351Cys | |
| ENST00000378220.2:c.1066C>T | ENSP00000367465.1:p.Arg356Cys | |
| ENST00000342595.2:c.1066C>T | ENSP00000340328.2:p.Arg356Cys | |
| ENST00000378220.1:c.1066C>T | ENSP00000367465.1:p.Arg356Cys | |
| NM_022567.2:c.1066C>T | NP_072089.1:p.Arg356Cys | |
| XM_005272632.2:c.1066C>T | XP_005272689.1:p.Arg356Cys | |
| XM_017029709.1:c.1066C>T | XP_016885198.1:p.Arg356Cys | |
| NM_001378477.3:c.1051C>T MANE Select | NP_001365406.2:p.Arg351Cys | |
| NM_022567.3:c.1051C>T | NP_072089.2:p.Arg351Cys |