Linked Data
ClinVar Variation Id:
2093049
ClinVar RCV Id:
RCV003008363
dbSNP Id:
rs1388450104
gnomAD v2:
X-48762248-A-G
gnomAD v3:
X-48904971-A-G
gnomAD v4:
X-48904971-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48904971A>G , CM000685.2:g.48904971A>G | GRCh38 |
| NC_000023.10:g.48762248A>G , CM000685.1:g.48762248A>G | GRCh37 |
| NC_000023.9:g.48647192A>G | NCBI36 |
| NG_015967.1:g.12054A>G | |
| NG_034300.1:g.11988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.938T>C MANE Select | ENSP00000247138.5:p.Ile313Thr | |
| ENST00000247138.10:c.938T>C | ENSP00000247138.5:p.Ile313Thr | |
| ENST00000376515.8:c.355-79T>C | ENSP00000365698.3:n.355-79T>C | |
| ENST00000376521.6:c.938T>C | ENSP00000365704.1:p.Ile313Thr | |
| ENST00000376529.8:c.427-79T>C | ENSP00000365712.3:n.427-79T>C | |
| ENST00000413561.7:c.500T>C | ||
| ENST00000445167.7:c.427-79T>C | ENSP00000402726.2:n.427-79T>C | |
| ENST00000452555.7:c.1022T>C | ENSP00000416002.2:p.Ile341Thr | |
| ENST00000616181.5:c.977T>C | ENSP00000478617.1:p.Ile326Thr | |
| ENST00000635285.1:c.938T>C | ENSP00000489484.1:p.Ile313Thr | |
| ENST00000635460.1:c.424+1421T>C | ||
| ENST00000635589.1:c.755T>C | ENSP00000489197.1:p.Ile252Thr | |
| ENST00000635628.1:c.*832T>C | ENSP00000489613.1:n.*832T>C | |
| NM_001032289.2:c.427-79T>C | NP_001027460.1:n.427-79T>C | |
| NM_001042498.2:c.938T>C | NP_001035963.1:p.Ile313Thr | |
| NM_001282647.1:c.427-79T>C | NP_001269576.1:n.427-79T>C | |
| NM_001282648.1:c.355-79T>C | NP_001269577.1:n.355-79T>C | |
| NM_001282649.1:c.755T>C | NP_001269578.1:p.Ile252Thr | |
| NM_001282650.1:c.977T>C | NP_001269579.1:p.Ile326Thr | |
| NM_001282651.1:c.1022T>C | NP_001269580.1:p.Ile341Thr | |
| NM_005660.2:c.938T>C | NP_005651.1:p.Ile313Thr | |
| NM_005660.3:c.938T>C MANE Select | NP_005651.1:p.Ile313Thr | |
| NM_001032289.3:c.427-79T>C | NP_001027460.1:n.427-79T>C | |
| NM_001042498.3:c.938T>C | NP_001035963.1:p.Ile313Thr | |
| NM_001282647.2:c.427-79T>C | NP_001269576.1:n.427-79T>C | |
| NM_001282649.2:c.755T>C | NP_001269578.1:p.Ile252Thr | |
| NM_001282650.2:c.977T>C | NP_001269579.1:p.Ile326Thr | |
| NM_001282651.2:c.1022T>C | NP_001269580.1:p.Ile341Thr | |
| NM_001282648.2:c.355-79T>C | NP_001269577.1:n.355-79T>C |