Linked Data
dbSNP Id:
rs759477611
ExAC:
15:45400997 A / G
gnomAD v2:
15-45400997-A-G
gnomAD v4:
15-45108799-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45108799A>G , CM000677.2:g.45108799A>G | GRCh38 |
| NC_000015.9:g.45400997A>G , CM000677.1:g.45400997A>G | GRCh37 |
| NC_000015.8:g.43188289A>G | NCBI36 |
| NG_009447.1:g.10363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389039.11:c.1388T>C MANE Select | ENSP00000373691.7:p.Val463Ala | |
| ENST00000389039.10:c.1388T>C | ENSP00000373691.6:p.Val463Ala | |
| ENST00000558383.1:n.2553T>C | ||
| ENST00000603300.1:c.1388T>C | ENSP00000475084.1:p.Val463Ala | |
| NM_014080.4:c.1388T>C | NP_054799.4:p.Val463Ala | |
| XM_005254421.2:c.1388T>C | XP_005254478.1:p.Val463Ala | |
| NM_001363711.1:c.1388T>C | NP_001350640.1:p.Val463Ala | |
| NM_001363711.2:c.1388T>C MANE Select | NP_001350640.1:p.Val463Ala | |
| NM_014080.5:c.1388T>C | NP_054799.4:p.Val463Ala |