Linked Data
dbSNP Id:
rs776144777
ExAC:
3:184971754 C / T
gnomAD v2:
3-184971754-C-T
gnomAD v3:
3-185253966-C-T
gnomAD v4:
3-185253966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185253966C>T , CM000665.2:g.185253966C>T | GRCh38 |
| NC_000003.11:g.184971754C>T , CM000665.1:g.184971754C>T | GRCh37 |
| NC_000003.10:g.186454448C>T | NCBI36 |
| NG_015999.1:g.5133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.57G>A MANE Select | ENSP00000231887.3:p.Pro19= | |
| ENST00000231887.7:c.57G>A | ENSP00000231887.3:p.Pro19= | |
| ENST00000440662.1:c.57G>A | ENSP00000396798.1:p.Pro19= | |
| ENST00000456310.5:c.-355G>A | ENSP00000387746.1:n.-355G>A | |
| ENST00000465178.1:n.228-5449G>A | ||
| ENST00000475987.1:n.84G>A | ||
| NM_001166415.1:c.-355G>A | NP_001159887.1:n.-355G>A | |
| NM_001966.3:c.57G>A | NP_001957.2:p.Pro19= | |
| XM_006713525.1:c.-599G>A | XP_006713588.1:n.-599G>A | |
| XM_011512517.1:c.-214-5449G>A | XP_011510819.1:n.-214-5449G>A | |
| NM_001966.4:c.57G>A MANE Select | NP_001957.2:p.Pro19= | |
| NM_001166415.2:c.-355G>A | NP_001159887.1:n.-355G>A |