Linked Data
dbSNP Id:
rs769945452
ExAC:
3:52540765 G / A
gnomAD v2:
3-52540765-G-A
gnomAD v4:
3-52506749-G-A
COSMIC:
COSM98036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52506749G>A , CM000665.2:g.52506749G>A | GRCh38 |
| NC_000003.11:g.52540765G>A , CM000665.1:g.52540765G>A | GRCh37 |
| NC_000003.10:g.52515805G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321725.10:c.1888G>A MANE Select | ENSP00000312946.6:p.Ala630Thr | |
| ENST00000481607.1:n.1943G>A | ||
| NM_015136.2:c.1888G>A | NP_055951.2:p.Ala630Thr | |
| XM_005264973.2:c.1888G>A | XP_005265030.1:p.Ala630Thr | |
| XM_005264974.2:c.1888G>A | XP_005265031.1:p.Ala630Thr | |
| XM_005264975.2:c.1888G>A | XP_005265032.1:p.Ala630Thr | |
| XM_006713065.1:c.1888G>A | XP_006713128.1:p.Ala630Thr | |
| XM_011533528.1:c.1888G>A | XP_011531830.1:p.Ala630Thr | |
| XR_940395.1:n.1964G>A | ||
| XM_005264973.3:c.1888G>A | XP_005265030.1:p.Ala630Thr | |
| XM_017005998.1:c.1888G>A | XP_016861487.1:p.Ala630Thr | |
| XM_017005999.1:c.1888G>A | XP_016861488.1:p.Ala630Thr | |
| XM_017006000.1:c.1888G>A | XP_016861489.1:p.Ala630Thr | |
| XM_017006001.1:c.1888G>A | XP_016861490.1:p.Ala630Thr | |
| XM_017006002.1:c.1888G>A | XP_016861491.1:p.Ala630Thr | |
| XM_017006003.1:c.1888G>A | XP_016861492.1:p.Ala630Thr | |
| XM_017006004.2:c.1888G>A | XP_016861493.1:p.Ala630Thr | |
| XR_001740064.1:n.1964G>A | ||
| NM_015136.3:c.1888G>A MANE Select | NP_055951.2:p.Ala630Thr |