Linked Data
dbSNP Id:
rs748741522
ExAC:
4:135121567 T / A
gnomAD v2:
4-135121567-T-A
gnomAD v3:
4-134200412-T-A
gnomAD v4:
4-134200412-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200412T>A , CM000666.2:g.134200412T>A | GRCh38 |
| NC_000004.11:g.135121567T>A , CM000666.1:g.135121567T>A | GRCh37 |
| NC_000004.10:g.135341017T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.608A>T MANE Select | ENSP00000463233.1:p.Asp203Val | |
| ENST00000421491.3:c.608A>T | ENSP00000463233.1:p.Asp203Val | |
| NM_001114734.1:c.782A>T | NP_001108206.2:p.Asp261Val | |
| NM_001114734.2:c.608A>T MANE Select | NP_001108206.3:p.Asp203Val | |
| NM_001363585.1:c.608A>T | NP_001350514.1:p.Asp203Val | |
| XR_001741133.1:n.1147A>T | ||
| XR_001741134.1:n.1147A>T | ||
| XR_001741135.1:n.1147A>T | ||
| XR_001741136.1:n.1147A>T | ||
| XR_001741137.1:n.1147A>T | ||
| XR_001741138.1:n.1147A>T | ||
| XR_001741139.1:n.1142A>T |