Linked Data
ClinVar Variation Id:
790297
dbSNP Id:
rs144393472
ExAC:
X:153696759 C / T
gnomAD v2:
X-153696759-C-T
gnomAD v3:
X-154468416-C-T
gnomAD v4:
X-154468416-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154468416C>T , CM000685.2:g.154468416C>T | GRCh38 |
| NC_000023.10:g.153696759C>T , CM000685.1:g.153696759C>T | GRCh37 |
| NC_000023.9:g.153349953C>T | NCBI36 |
| NG_021298.2:g.15142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369682.4:c.4077C>T MANE Select | ENSP00000358696.3:p.Arg1359= | |
| NM_017514.4:c.4077C>T | NP_059984.3:p.Arg1359= | |
| XM_005274705.3:c.4023C>T | XP_005274762.2:p.Arg1341= | |
| XM_005274706.3:c.3831C>T | XP_005274763.2:p.Arg1277= | |
| XM_006724829.2:c.3987C>T | XP_006724892.1:p.Arg1329= | |
| XM_011531183.1:c.3516C>T | XP_011529485.1:p.Arg1172= | |
| XR_938509.1:n.4247C>T | ||
| XR_938510.1:n.4089C>T | ||
| XM_005274705.4:c.4023C>T | XP_005274762.2:p.Arg1341= | |
| XM_005274706.4:c.3831C>T | XP_005274763.2:p.Arg1277= | |
| XM_006724829.3:c.3987C>T | XP_006724892.1:p.Arg1329= | |
| XM_011531183.2:c.3516C>T | XP_011529485.1:p.Arg1172= | |
| XR_001755709.1:n.4246C>T | ||
| XR_002958778.1:n.4246C>T | ||
| XR_938510.2:n.4088C>T | ||
| NM_017514.5:c.4077C>T MANE Select | NP_059984.3:p.Arg1359= |