Linked Data
ClinVar Variation Id:
973340
dbSNP Id:
rs994932069
gnomAD v2:
5-138282906-T-A
gnomAD v3:
5-138947217-T-A
gnomAD v4:
5-138947217-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947217T>A , CM000667.2:g.138947217T>A | GRCh38 |
| NC_000005.9:g.138282906T>A , CM000667.1:g.138282906T>A | GRCh37 |
| NC_000005.8:g.138310805T>A | NCBI36 |
| NG_008112.1:g.256160A>T | |
| NG_008112.2:g.256160A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1286A>T MANE Select | ENSP00000378294.2:p.Tyr429Phe | |
| ENST00000265195.9:c.1286A>T | ENSP00000265195.5:p.Tyr429Phe | |
| ENST00000394817.6:c.1286A>T | ENSP00000378294.2:p.Tyr429Phe | |
| ENST00000509534.5:c.1307A>T | ENSP00000426858.1:p.Tyr436Phe | |
| ENST00000515008.1:n.621A>T | ||
| NM_001037633.1:c.1286A>T | NP_001032722.1:p.Tyr429Phe | |
| NM_022464.4:c.1286A>T | NP_071909.1:p.Tyr429Phe | |
| XM_011543570.1:c.1316A>T | XP_011541872.1:p.Tyr439Phe | |
| XM_011543570.2:c.1316A>T | XP_011541872.1:p.Tyr439Phe | |
| XM_024446164.1:c.1286A>T | XP_024301932.1:p.Tyr429Phe | |
| NM_022464.5:c.1286A>T MANE Select | NP_071909.1:p.Tyr429Phe | |
| NM_001037633.2:c.1286A>T | NP_001032722.1:p.Tyr429Phe |