Linked Data
ClinVar Variation Id:
183357
dbSNP Id:
rs730882249
ExAC:
7:99703604 C / T
gnomAD v2:
7-99703604-C-T
gnomAD v4:
7-100105981-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100105981C>T , CM000669.2:g.100105981C>T | GRCh38 |
| NC_000007.13:g.99703604C>T , CM000669.1:g.99703604C>T | GRCh37 |
| NC_000007.12:g.99541540C>T | NCBI36 |
| NG_016312.1:g.9475C>T | |
| NG_029454.1:g.18878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.952C>T | ENSP00000393723.2:p.Arg318Ter | |
| ENST00000495154.2:n.1211C>T | ||
| ENST00000713591.1:c.952C>T | ENSP00000518888.1:p.Arg318Ter | |
| ENST00000359593.9:c.952C>T MANE Select | ENSP00000352603.4:p.Arg318Ter | |
| ENST00000359593.8:c.952C>T | ENSP00000352603.4:p.Arg318Ter | |
| ENST00000416938.5:c.841C>T | ||
| ENST00000421755.5:c.952C>T | ENSP00000412185.1:p.Arg318Ter | |
| ENST00000422582.5:c.568C>T | ENSP00000406676.1:p.Arg190Ter | |
| ENST00000429084.5:c.973C>T | ENSP00000403663.1:p.Arg325Ter | |
| ENST00000438383.5:c.748C>T | ENSP00000401613.1:p.Arg250Ter | |
| ENST00000445208.5:c.*561C>T | ENSP00000400598.1:n.*561C>T | |
| ENST00000445295.1:c.129C>T | ||
| ENST00000446007.5:c.*174C>T | ENSP00000396928.1:n.*174C>T | |
| ENST00000450807.5:c.208C>T | ENSP00000391585.1:p.Arg70Ter | |
| ENST00000463195.5:n.959C>T | ||
| ENST00000489387.1:n.5C>T | ||
| NM_004722.3:c.952C>T | NP_004713.2:p.Arg318Ter | |
| XM_005250689.3:c.973C>T | XP_005250746.1:p.Arg325Ter | |
| XM_005250690.3:c.748C>T | XP_005250747.1:p.Arg250Ter | |
| XM_006716175.2:c.973C>T | XP_006716238.1:p.Arg325Ter | |
| XM_011516685.1:c.973C>T | XP_011514987.1:p.Arg325Ter | |
| XM_011516686.1:c.568C>T | XP_011514988.1:p.Arg190Ter | |
| XM_011516687.1:c.277C>T | XP_011514989.1:p.Arg93Ter | |
| NM_001363671.1:c.973C>T | NP_001350600.1:p.Arg325Ter | |
| XM_005250689.4:c.973C>T | XP_005250746.1:p.Arg325Ter | |
| XM_005250690.4:c.748C>T | XP_005250747.1:p.Arg250Ter | |
| XM_006716175.4:c.973C>T | XP_006716238.1:p.Arg325Ter | |
| XM_017012790.2:c.568C>T | XP_016868279.1:p.Arg190Ter | |
| XM_017012791.2:c.277C>T | XP_016868280.1:p.Arg93Ter | |
| XM_024446995.1:c.952C>T | XP_024302763.1:p.Arg318Ter | |
| XM_024446996.1:c.277C>T | XP_024302764.1:p.Arg93Ter | |
| NM_004722.4:c.952C>T MANE Select | NP_004713.2:p.Arg318Ter | |
| NM_001363671.2:c.973C>T | NP_001350600.1:p.Arg325Ter |