Linked Data
ClinVar Variation Id:
407102
dbSNP Id:
rs199574440
ExAC:
2:26671580 C / T
gnomAD v2:
2-26671580-C-T
gnomAD v3:
2-26448712-C-T
gnomAD v4:
2-26448712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26448712C>T , CM000664.2:g.26448712C>T | GRCh38 |
| NC_000002.11:g.26671580C>T , CM000664.1:g.26671580C>T | GRCh37 |
| NC_000002.10:g.26525084C>T | NCBI36 |
| NG_042824.1:g.51801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.1418C>T MANE Select | ENSP00000288710.2:p.Ala473Val | |
| ENST00000649059.1:c.1264C>T | ||
| ENST00000288710.6:c.1418C>T | ENSP00000288710.2:p.Ala473Val | |
| ENST00000439066.2:n.148C>T | ||
| NM_145038.3:c.1418C>T | NP_659475.2:p.Ala473Val | |
| NM_145038.4:c.1418C>T | NP_659475.2:p.Ala473Val | |
| XM_005264637.3:c.800C>T | XP_005264694.1:p.Ala267Val | |
| XM_005264638.3:c.398C>T | XP_005264695.1:p.Ala133Val | |
| XM_017005271.1:c.398C>T | XP_016860760.1:p.Ala133Val | |
| XM_024453218.1:c.398C>T | XP_024308986.1:p.Ala133Val | |
| NM_145038.5:c.1418C>T MANE Select | NP_659475.2:p.Ala473Val |