Linked Data
ClinVar Variation Id:
342748
ClinVar RCV Id:
RCV000344698
dbSNP Id:
rs2293734
ExAC:
3:120365895 C / T
gnomAD v2:
3-120365895-C-T
gnomAD v3:
3-120647048-C-T
gnomAD v4:
3-120647048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120647048C>T , CM000665.2:g.120647048C>T | GRCh38 |
| NC_000003.11:g.120365895C>T , CM000665.1:g.120365895C>T | GRCh37 |
| NC_000003.10:g.121848585C>T | NCBI36 |
| NG_011957.1:g.40434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.474G>A MANE Select | ENSP00000283871.5:p.Pro158= | |
| ENST00000283871.9:c.474G>A | ENSP00000283871.5:p.Pro158= | |
| ENST00000475447.2:c.5G>A | ||
| ENST00000476082.2:c.351G>A | ENSP00000419560.2:p.Pro117= | |
| ENST00000492108.5:c.105G>A | ENSP00000419838.1:p.Pro35= | |
| NM_000187.3:c.474G>A | NP_000178.2:p.Pro158= | |
| XM_005247412.1:c.474G>A | XP_005247469.1:p.Pro158= | |
| XM_005247413.1:c.474G>A | XP_005247470.1:p.Pro158= | |
| XM_005247414.3:c.474G>A | XP_005247471.1:p.Pro158= | |
| XM_011512746.1:c.474G>A | XP_011511048.1:p.Pro158= | |
| XM_005247412.2:c.474G>A | XP_005247469.1:p.Pro158= | |
| XM_005247413.2:c.474G>A | XP_005247470.1:p.Pro158= | |
| XM_005247414.5:c.474G>A | XP_005247471.1:p.Pro158= | |
| XM_011512746.2:c.474G>A | XP_011511048.1:p.Pro158= | |
| XM_017006277.2:c.51G>A | XP_016861766.1:p.Pro17= | |
| NM_000187.4:c.474G>A MANE Select | NP_000178.2:p.Pro158= |