Linked Data
ClinVar Variation Id:
1851
ClinVar RCV Id:
RCV000001925
dbSNP Id:
rs137852862
ExAC:
7:40228168 C / T
gnomAD v2:
7-40228168-C-T
gnomAD v3:
7-40188569-C-T
gnomAD v4:
7-40188569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40188569C>T , CM000669.2:g.40188569C>T | GRCh38 |
| NC_000007.13:g.40228168C>T , CM000669.1:g.40228168C>T | GRCh37 |
| NC_000007.12:g.40194693C>T | NCBI36 |
| NG_023422.1:g.58594C>T | |
| NG_023422.2:g.58594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335693.9:c.301C>T MANE Select | ENSP00000338475.5:p.Arg101Ter | |
| ENST00000401647.7:c.301C>T | ENSP00000385222.3:p.Arg101Ter | |
| ENST00000413931.6:c.*195C>T | ENSP00000395000.2:n.*195C>T | |
| ENST00000416370.2:c.301C>T | ENSP00000393032.2:p.Arg101Ter | |
| ENST00000444074.3:c.*120C>T | ENSP00000401187.2:n.*120C>T | |
| ENST00000628514.3:c.301C>T | ENSP00000486291.2:p.Arg101Ter | |
| ENST00000335693.8:c.322C>T | ENSP00000338475.4:p.Arg108Ter | |
| ENST00000401647.6:c.322C>T | ENSP00000385222.2:p.Arg108Ter | |
| ENST00000413931.5:c.356C>T | ||
| ENST00000416370.1:c.306C>T | ||
| ENST00000444074.2:c.269C>T | ||
| ENST00000628514.2:c.322C>T | ENSP00000486291.1:p.Arg108Ter | |
| NM_001193311.1:c.322C>T | NP_001180240.1:p.Arg108Ter | |
| NM_001193312.1:c.322C>T | NP_001180241.1:p.Arg108Ter | |
| NM_001193313.1:c.322C>T | NP_001180242.1:p.Arg108Ter | |
| NM_024728.2:c.322C>T | NP_079004.1:p.Arg108Ter | |
| XM_006715775.2:c.322C>T | XP_006715838.1:p.Arg108Ter | |
| XM_011515525.1:c.322C>T | XP_011513827.1:p.Arg108Ter | |
| XM_011515526.1:c.244C>T | XP_011513828.1:p.Arg82Ter | |
| XM_011515527.1:c.322C>T | XP_011513829.1:p.Arg108Ter | |
| XM_011515528.1:c.322C>T | XP_011513830.1:p.Arg108Ter | |
| XM_011515529.1:c.322C>T | XP_011513831.1:p.Arg108Ter | |
| XM_011515530.1:c.322C>T | XP_011513832.1:p.Arg108Ter | |
| XM_006715775.3:c.322C>T | XP_006715838.1:p.Arg108Ter | |
| XM_011515525.3:c.322C>T | XP_011513827.1:p.Arg108Ter | |
| XM_011515526.2:c.244C>T | XP_011513828.1:p.Arg82Ter | |
| XM_011515527.3:c.322C>T | XP_011513829.1:p.Arg108Ter | |
| XM_011515528.3:c.322C>T | XP_011513830.1:p.Arg108Ter | |
| XM_011515529.3:c.322C>T | XP_011513831.1:p.Arg108Ter | |
| XM_011515530.3:c.322C>T | XP_011513832.1:p.Arg108Ter | |
| XM_017012621.1:c.199C>T | XP_016868110.1:p.Arg67Ter | |
| XM_017012622.2:c.322C>T | XP_016868111.1:p.Arg108Ter | |
| NM_001193311.2:c.301C>T | NP_001180240.2:p.Arg101Ter | |
| NM_001193312.2:c.301C>T | NP_001180241.2:p.Arg101Ter | |
| NM_001193313.2:c.301C>T MANE Select | NP_001180242.2:p.Arg101Ter | |
| NM_024728.3:c.301C>T | NP_079004.2:p.Arg101Ter |