Linked Data
ClinVar Variation Id:
347489
dbSNP Id:
rs542274936
ExAC:
4:122791458 A / G
gnomAD v2:
4-122791458-A-G
gnomAD v3:
4-121870303-A-G
gnomAD v4:
4-121870303-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121870303A>G , CM000666.2:g.121870303A>G | GRCh38 |
| NC_000004.11:g.122791458A>G , CM000666.1:g.122791458A>G | GRCh37 |
| NC_000004.10:g.123010908A>G | NCBI36 |
| NG_009111.1:g.5185T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.11T>C MANE Select | ENSP00000264499.4:p.Ile4Thr | |
| ENST00000264499.8:c.11T>C | ENSP00000264499.4:p.Ile4Thr | |
| ENST00000502444.1:n.185T>C | ||
| ENST00000506636.1:c.11T>C | ENSP00000423626.1:p.Ile4Thr | |
| NM_018190.3:c.11T>C | NP_060660.2:p.Ile4Thr | |
| NM_176824.2:c.11T>C | NP_789794.1:p.Ile4Thr | |
| XM_005263106.2:c.11T>C | XP_005263163.1:p.Ile4Thr | |
| XM_011532079.1:c.11T>C | XP_011530381.1:p.Ile4Thr | |
| XM_011532080.1:c.11T>C | XP_011530382.1:p.Ile4Thr | |
| XM_011532081.1:c.11T>C | XP_011530383.1:p.Ile4Thr | |
| XM_005263106.4:c.11T>C | XP_005263163.1:p.Ile4Thr | |
| XM_011532079.3:c.11T>C | XP_011530381.1:p.Ile4Thr | |
| XM_011532080.3:c.11T>C | XP_011530382.1:p.Ile4Thr | |
| XM_011532081.3:c.11T>C | XP_011530383.1:p.Ile4Thr | |
| XM_017008357.2:c.11T>C | XP_016863846.1:p.Ile4Thr | |
| XM_017008358.2:c.11T>C | XP_016863847.1:p.Ile4Thr | |
| NM_176824.3:c.11T>C MANE Select | NP_789794.1:p.Ile4Thr | |
| NM_018190.4:c.11T>C | NP_060660.2:p.Ile4Thr |