Linked Data
ClinVar Variation Id:
281716
dbSNP Id:
rs761463158
ExAC:
X:17746117 C / T
gnomAD v2:
X-17746117-C-T
gnomAD v3:
X-17727997-C-T
gnomAD v4:
X-17727997-C-T
COSMIC:
COSM5123591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17727997C>T , CM000685.2:g.17727997C>T | GRCh38 |
| NC_000023.10:g.17746117C>T , CM000685.1:g.17746117C>T | GRCh37 |
| NC_000023.9:g.17656038C>T | NCBI36 |
| NG_011553.2:g.357578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.4286C>T | ||
| ENST00000690608.1:n.2848C>T | ||
| ENST00000676302.1:c.3891C>T MANE Select | ENSP00000502262.1:p.Asp1297= | |
| ENST00000380060.7:c.3828C>T | ENSP00000369400.3:p.Asp1276= | |
| ENST00000398097.7:c.3360C>T | ENSP00000381170.3:p.Asp1120= | |
| ENST00000615422.1:c.3351C>T | ENSP00000480113.1:p.Asp1117= | |
| ENST00000617601.4:c.3279C>T | ENSP00000478433.1:p.Asp1093= | |
| NM_001136024.3:c.3360C>T | NP_001129496.1:p.Asp1120= | |
| NM_001291867.1:c.3891C>T | NP_001278796.1:p.Asp1297= | |
| NM_001291868.1:c.3297C>T | NP_001278797.1:p.Asp1099= | |
| NM_198270.3:c.3828C>T | NP_938011.1:p.Asp1276= | |
| XM_011545528.1:c.2943C>T | XP_011543830.1:p.Asp981= | |
| XM_011545528.2:c.2943C>T | XP_011543830.1:p.Asp981= | |
| NM_001136024.4:c.3360C>T | NP_001129496.1:p.Asp1120= | |
| NM_001291867.2:c.3891C>T MANE Select | NP_001278796.1:p.Asp1297= | |
| NM_001291868.2:c.3297C>T | NP_001278797.1:p.Asp1099= | |
| NM_198270.4:c.3828C>T | NP_938011.1:p.Asp1276= |