Linked Data
dbSNP Id:
rs116807401
ExAC:
4:135121721 T / C
gnomAD v2:
4-135121721-T-C
gnomAD v3:
4-134200566-T-C
gnomAD v4:
4-134200566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200566T>C , CM000666.2:g.134200566T>C | GRCh38 |
| NC_000004.11:g.135121721T>C , CM000666.1:g.135121721T>C | GRCh37 |
| NC_000004.10:g.135341171T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000421491.4:c.454A>G MANE Select | ENSP00000463233.1:p.Arg152Gly | |
| ENST00000421491.3:c.454A>G | ENSP00000463233.1:p.Arg152Gly | |
| NM_001114734.1:c.628A>G | NP_001108206.2:p.Arg210Gly | |
| NM_001114734.2:c.454A>G MANE Select | NP_001108206.3:p.Arg152Gly | |
| NM_001363585.1:c.454A>G | NP_001350514.1:p.Arg152Gly | |
| XR_001741133.1:n.993A>G | ||
| XR_001741134.1:n.993A>G | ||
| XR_001741135.1:n.993A>G | ||
| XR_001741136.1:n.993A>G | ||
| XR_001741137.1:n.993A>G | ||
| XR_001741138.1:n.993A>G | ||
| XR_001741139.1:n.988A>G |