Linked Data
ClinVar Variation Id:
2031145
ClinVar RCV Id:
RCV002872231
dbSNP Id:
rs1202238772
gnomAD v2:
5-32712269-C-T
gnomAD v3:
5-32712163-C-T
gnomAD v4:
5-32712163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32712163C>T , CM000667.2:g.32712163C>T | GRCh38 |
| NC_000005.9:g.32712269C>T , CM000667.1:g.32712269C>T | GRCh37 |
| NC_000005.8:g.32748026C>T | NCBI36 |
| NG_028162.1:g.6527C>T | |
| NG_028162.2:g.28088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265074.13:c.387C>T MANE Select | ENSP00000265074.8:p.Asp129= | |
| ENST00000265074.12:c.387C>T | ENSP00000265074.8:p.Asp129= | |
| ENST00000326958.5:c.121+1380C>T | ENSP00000318340.2:n.121+1380C>T | |
| ENST00000415167.2:c.387C>T | ENSP00000398028.2:p.Asp129= | |
| ENST00000434067.6:c.121+1380C>T | ENSP00000388408.2:n.121+1380C>T | |
| ENST00000506712.1:n.130+1380C>T | ||
| ENST00000509104.5:c.101-12535C>T | ENSP00000425325.1:n.101-12535C>T | |
| NM_000908.3:c.387C>T | NP_000899.1:p.Asp129= | |
| NM_001204375.1:c.387C>T | NP_001191304.1:p.Asp129= | |
| NM_001204376.1:c.121+1380C>T | NP_001191305.1:n.121+1380C>T | |
| XM_005248309.1:c.121+1380C>T | XP_005248366.1:n.121+1380C>T | |
| XM_005248310.2:c.387C>T | XP_005248367.1:p.Asp129= | |
| XM_011514047.1:c.101-12535C>T | XP_011512349.1:n.101-12535C>T | |
| XM_011514048.1:c.50-12535C>T | XP_011512350.1:n.50-12535C>T | |
| XM_011514049.1:c.-8-12535C>T | XP_011512351.1:n.-8-12535C>T | |
| XM_011514050.1:c.387C>T | XP_011512352.1:p.Asp129= | |
| NM_001363652.1:c.121+1380C>T | NP_001350581.1:n.121+1380C>T | |
| NM_001364458.1:c.50-12535C>T | NP_001351387.1:n.50-12535C>T | |
| NM_001364460.1:c.121+1380C>T | NP_001351389.1:n.121+1380C>T | |
| XM_011514047.2:c.101-12535C>T | XP_011512349.1:n.101-12535C>T | |
| XM_011514049.3:c.-8-12535C>T | XP_011512351.1:n.-8-12535C>T | |
| XM_011514050.2:c.387C>T | XP_011512352.1:p.Asp129= | |
| XM_017009492.2:c.387C>T | XP_016864981.1:p.Asp129= | |
| NM_001204375.2:c.387C>T MANE Select | NP_001191304.1:p.Asp129= | |
| NM_000908.4:c.387C>T | NP_000899.1:p.Asp129= | |
| NM_001363652.2:c.121+1380C>T | NP_001350581.1:n.121+1380C>T | |
| NM_001364458.2:c.50-12535C>T | NP_001351387.1:n.50-12535C>T | |
| NM_001364460.2:c.121+1380C>T | NP_001351389.1:n.121+1380C>T | |
| NM_001204376.2:c.121+1380C>T | NP_001191305.1:n.121+1380C>T |