Linked Data
ClinVar Variation Id:
158176
dbSNP Id:
rs144204039
ExAC:
X:18622115 C / T
gnomAD v2:
X-18622115-C-T
gnomAD v3:
X-18603995-C-T
gnomAD v4:
X-18603995-C-T
COSMIC:
COSM266218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18603995C>T , CM000685.2:g.18603995C>T | GRCh38 |
| NC_000023.10:g.18622115C>T , CM000685.1:g.18622115C>T | GRCh37 |
| NC_000023.9:g.18532036C>T | NCBI36 |
| NG_008475.1:g.183391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1071C>T MANE Select | ENSP00000485244.1:p.Asp357= | |
| ENST00000635828.1:c.1071C>T | ENSP00000490170.1:p.Asp357= | |
| ENST00000637881.1:c.1071C>T | ENSP00000489879.1:p.Asp357= | |
| ENST00000674046.1:c.1071C>T | ENSP00000501174.1:p.Asp357= | |
| ENST00000379989.6:c.1071C>T | ENSP00000369325.3:p.Asp357= | |
| ENST00000379996.7:c.1071C>T | ENSP00000369332.3:p.Asp357= | |
| ENST00000463994.4:c.1071C>T | ENSP00000485184.1:p.Asp357= | |
| ENST00000623535.1:c.1071C>T | ENSP00000485244.1:p.Asp357= | |
| NM_001037343.1:c.1071C>T | NP_001032420.1:p.Asp357= | |
| NM_003159.2:c.1071C>T | NP_003150.1:p.Asp357= | |
| XM_011545569.1:c.1020C>T | XP_011543871.1:p.Asp340= | |
| XM_011545570.1:c.939C>T | XP_011543872.1:p.Asp313= | |
| XR_950484.1:n.1323C>T | ||
| NM_001323289.1:c.1071C>T | NP_001310218.1:p.Asp357= | |
| NM_001323289.2:c.1071C>T MANE Select | NP_001310218.1:p.Asp357= | |
| NM_001037343.2:c.1071C>T | NP_001032420.1:p.Asp357= | |
| NM_003159.3:c.1071C>T | NP_003150.1:p.Asp357= |