Linked Data
dbSNP Id:
rs562543522
ExAC:
3:165547533 G / T
gnomAD v2:
3-165547533-G-T
gnomAD v4:
3-165829745-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829745G>T , CM000665.2:g.165829745G>T | GRCh38 |
| NC_000003.11:g.165547533G>T , CM000665.1:g.165547533G>T | GRCh37 |
| NC_000003.10:g.167030227G>T | NCBI36 |
| NG_009031.1:g.12721C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1289C>A MANE Select | ENSP00000264381.3:p.Ala430Asp | |
| ENST00000264381.7:c.1289C>A | ENSP00000264381.3:p.Ala430Asp | |
| ENST00000479451.5:c.107+7569C>A | ENSP00000418325.1:n.107+7569C>A | |
| ENST00000482958.1:c.1289C>A | ENSP00000419804.1:p.Ala430Asp | |
| ENST00000488954.1:c.107+7569C>A | ENSP00000418504.1:n.107+7569C>A | |
| ENST00000497011.5:c.1289C>A | ENSP00000419505.1:p.Ala430Asp | |
| NM_000055.2:c.1289C>A | NP_000046.1:p.Ala430Asp | |
| XM_005247685.1:c.1412C>A | XP_005247742.1:p.Ala471Asp | |
| NM_000055.3:c.1289C>A | NP_000046.1:p.Ala430Asp | |
| NR_137635.1:n.159+7569C>A | ||
| NR_137636.1:n.1456C>A | ||
| NM_000055.4:c.1289C>A MANE Select | NP_000046.1:p.Ala430Asp | |
| NR_137635.2:n.110+7569C>A | ||
| NR_137636.2:n.1407C>A |