Linked Data
dbSNP Id:
rs772244923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658585C>A , CM000668.2:g.24658585C>A | GRCh38 |
| NC_000006.11:g.24658813C>A , CM000668.1:g.24658813C>A | GRCh37 |
| NC_000006.10:g.24766792C>A | NCBI36 |
| NG_052787.1:g.13303G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.401G>T MANE Select | ENSP00000367440.4:p.Arg134Leu | |
| ENST00000341060.3:c.227G>T | ENSP00000345345.3:p.Arg76Leu | |
| ENST00000378198.8:c.401G>T | ENSP00000367440.4:p.Arg134Leu | |
| ENST00000478285.1:n.588G>T | ||
| ENST00000478507.1:n.320-5432G>T | ||
| NM_016614.2:c.401G>T | NP_057698.2:p.Arg134Leu | |
| XR_926244.1:n.528G>T | ||
| NM_016614.3:c.401G>T MANE Select | NP_057698.2:p.Arg134Leu |