Linked Data
dbSNP Id:
rs778941478
ExAC:
6:24658812 T / C
gnomAD v2:
6-24658812-T-C
gnomAD v3:
6-24658584-T-C
gnomAD v4:
6-24658584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658584T>C , CM000668.2:g.24658584T>C | GRCh38 |
| NC_000006.11:g.24658812T>C , CM000668.1:g.24658812T>C | GRCh37 |
| NC_000006.10:g.24766791T>C | NCBI36 |
| NG_052787.1:g.13304A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.402A>G MANE Select | ENSP00000367440.4:p.Arg134= | |
| ENST00000341060.3:c.228A>G | ENSP00000345345.3:p.Arg76= | |
| ENST00000378198.8:c.402A>G | ENSP00000367440.4:p.Arg134= | |
| ENST00000478285.1:n.589A>G | ||
| ENST00000478507.1:n.320-5431A>G | ||
| NM_016614.2:c.402A>G | NP_057698.2:p.Arg134= | |
| XR_926244.1:n.529A>G | ||
| NM_016614.3:c.402A>G MANE Select | NP_057698.2:p.Arg134= |