Linked Data
ClinVar Variation Id:
342751
ClinVar RCV Id:
RCV000359600
dbSNP Id:
rs559502955
ExAC:
3:120371474 G / T
gnomAD v2:
3-120371474-G-T
gnomAD v3:
3-120652627-G-T
gnomAD v4:
3-120652627-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120652627G>T , CM000665.2:g.120652627G>T | GRCh38 |
| NC_000003.11:g.120371474G>T , CM000665.1:g.120371474G>T | GRCh37 |
| NC_000003.10:g.121854164G>T | NCBI36 |
| NG_011957.1:g.34855C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.307C>A MANE Select | ENSP00000283871.5:p.Pro103Thr | |
| ENST00000283871.9:c.307C>A | ENSP00000283871.5:p.Pro103Thr | |
| ENST00000476082.2:c.184C>A | ENSP00000419560.2:p.Pro62Thr | |
| ENST00000485313.5:n.415C>A | ||
| ENST00000488183.5:n.560C>A | ||
| NM_000187.3:c.307C>A | NP_000178.2:p.Pro103Thr | |
| XM_005247412.1:c.307C>A | XP_005247469.1:p.Pro103Thr | |
| XM_005247413.1:c.307C>A | XP_005247470.1:p.Pro103Thr | |
| XM_005247414.3:c.307C>A | XP_005247471.1:p.Pro103Thr | |
| XM_011512746.1:c.307C>A | XP_011511048.1:p.Pro103Thr | |
| XM_005247412.2:c.307C>A | XP_005247469.1:p.Pro103Thr | |
| XM_005247413.2:c.307C>A | XP_005247470.1:p.Pro103Thr | |
| XM_005247414.5:c.307C>A | XP_005247471.1:p.Pro103Thr | |
| XM_011512746.2:c.307C>A | XP_011511048.1:p.Pro103Thr | |
| XM_017006277.2:c.-117C>A | XP_016861766.1:n.-117C>A | |
| NM_000187.4:c.307C>A MANE Select | NP_000178.2:p.Pro103Thr |