Linked Data
ClinVar Variation Id:
193158
dbSNP Id:
rs558064127
ExAC:
7:16460869 T / G
gnomAD v2:
7-16460869-T-G
gnomAD v3:
7-16421244-T-G
gnomAD v4:
7-16421244-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16421244T>G , CM000669.2:g.16421244T>G | GRCh38 |
| NC_000007.13:g.16460869T>G , CM000669.1:g.16460869T>G | GRCh37 |
| NC_000007.12:g.16427394T>G | NCBI36 |
| NG_032690.1:g.5079A>C | |
| NG_032690.2:g.5079A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.79A>C MANE Select | ENSP00000385478.2:p.Thr27Pro | |
| ENST00000674759.1:c.-46-14907A>C | ENSP00000502749.1:n.-46-14907A>C | |
| ENST00000675257.1:c.-46-14907A>C | ENSP00000501664.1:n.-46-14907A>C | |
| ENST00000399310.3:c.79A>C | ENSP00000382249.3:p.Thr27Pro | |
| ENST00000407010.6:c.79A>C | ENSP00000385478.2:p.Thr27Pro | |
| NM_001101417.3:c.79A>C | NP_001094887.1:p.Thr27Pro | |
| NM_001101426.3:c.79A>C | NP_001094896.1:p.Thr27Pro | |
| XM_011515497.1:c.79A>C | XP_011513799.1:p.Thr27Pro | |
| XM_011515498.1:c.79A>C | XP_011513800.1:p.Thr27Pro | |
| XM_011515499.1:c.79A>C | XP_011513801.1:p.Thr27Pro | |
| XM_011515500.1:c.79A>C | XP_011513802.1:p.Thr27Pro | |
| XM_011515501.1:c.79A>C | XP_011513803.1:p.Thr27Pro | |
| XM_011515502.1:c.-46-14907A>C | XP_011513804.1:n.-46-14907A>C | |
| XM_011515503.1:c.-46-14907A>C | XP_011513805.1:n.-46-14907A>C | |
| XM_011515504.1:c.-46-14907A>C | XP_011513806.1:n.-46-14907A>C | |
| XM_011515505.1:c.-46-14907A>C | XP_011513807.1:n.-46-14907A>C | |
| XM_011515506.1:c.-46-14907A>C | XP_011513808.1:n.-46-14907A>C | |
| XM_011515507.1:c.-46-14907A>C | XP_011513809.1:n.-46-14907A>C | |
| XM_011515508.1:c.-47+560A>C | XP_011513810.1:n.-47+560A>C | |
| XM_011515510.1:c.79A>C | XP_011513812.1:p.Thr27Pro | |
| XM_011515511.1:c.79A>C | XP_011513813.1:p.Thr27Pro | |
| XM_011515499.2:c.79A>C | XP_011513801.1:p.Thr27Pro | |
| XM_011515500.2:c.79A>C | XP_011513802.1:p.Thr27Pro | |
| XM_011515501.2:c.79A>C | XP_011513803.1:p.Thr27Pro | |
| XM_011515508.2:c.-47+560A>C | XP_011513810.1:n.-47+560A>C | |
| XM_017012575.1:c.79A>C | XP_016868064.1:p.Thr27Pro | |
| XM_017012576.1:c.79A>C | XP_016868065.1:p.Thr27Pro | |
| XM_024446909.1:c.-46-14907A>C | XP_024302677.1:n.-46-14907A>C | |
| XM_024446910.1:c.-46-14907A>C | XP_024302678.1:n.-46-14907A>C | |
| XM_024446911.1:c.-46-14907A>C | XP_024302679.1:n.-46-14907A>C | |
| XR_001744864.1:n.230A>C | ||
| XR_001744865.1:n.238A>C | ||
| XR_001744866.1:n.258A>C | ||
| XR_001744867.1:n.262A>C | ||
| XR_001744868.1:n.238A>C | ||
| NM_001101426.4:c.79A>C MANE Select | NP_001094896.1:p.Thr27Pro | |
| NM_001101417.4:c.79A>C | NP_001094887.1:p.Thr27Pro | |
| NM_001368197.1:c.79A>C | NP_001355126.1:p.Thr27Pro | |
| NR_160656.1:n.295A>C |