Linked Data
ClinVar Variation Id:
1130471
ClinVar RCV Id:
RCV001463992
dbSNP Id:
rs781190136
ExAC:
3:119084209 C / T
gnomAD v2:
3-119084209-C-T
gnomAD v3:
3-119365362-C-T
gnomAD v4:
3-119365362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119365362C>T , CM000665.2:g.119365362C>T | GRCh38 |
| NC_000003.11:g.119084209C>T , CM000665.1:g.119084209C>T | GRCh37 |
| NC_000003.10:g.120566899C>T | NCBI36 |
| NG_007665.2:g.75990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.147C>T MANE Select | ENSP00000264245.4:p.Gly49= | |
| ENST00000264245.8:c.147C>T | ENSP00000264245.4:p.Gly49= | |
| ENST00000482743.1:c.60C>T | ENSP00000418429.1:p.Gly20= | |
| NM_020754.3:c.147C>T | NP_065805.2:p.Gly49= | |
| XM_005247671.3:c.54C>T | XP_005247728.1:p.Gly18= | |
| XM_006713714.2:c.147C>T | XP_006713777.1:p.Gly49= | |
| XM_006713714.3:c.147C>T | XP_006713777.1:p.Gly49= | |
| XM_017006955.1:c.-201C>T | XP_016862444.1:n.-201C>T | |
| NM_020754.4:c.147C>T MANE Select | NP_065805.2:p.Gly49= |