Linked Data
dbSNP Id:
rs151341152
ExAC:
6:31324581 A / C
gnomAD v3:
6-31356804-A-C
gnomAD v4:
6-31356804-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356804A>C , CM000668.2:g.31356804A>C | GRCh38 |
| NC_000006.11:g.31324581A>C , CM000668.1:g.31324581A>C | GRCh37 |
| NC_000006.10:g.31432560A>C | NCBI36 |
| NG_023187.1:g.5409T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1700T>G | ||
| ENST00000481849.6:n.1700T>G | ||
| ENST00000497377.6:n.1700T>G | ||
| ENST00000640094.2:c.227T>G | ENSP00000491275.2:p.Ile76Arg | |
| ENST00000696558.1:c.227T>G | ENSP00000512716.1:p.Ile76Arg | |
| ENST00000696559.1:c.227T>G | ENSP00000512717.1:p.Ile76Arg | |
| ENST00000696560.1:c.227T>G | ENSP00000512718.1:p.Ile76Arg | |
| ENST00000696561.1:c.227T>G | ENSP00000512719.1:p.Ile76Arg | |
| ENST00000696562.1:c.227T>G | ENSP00000512720.1:p.Ile76Arg | |
| ENST00000412585.7:c.227T>G MANE Select | ENSP00000399168.2:p.Ile76Arg | |
| ENST00000412585.6:c.227T>G | ENSP00000399168.2:p.Ile76Arg | |
| ENST00000434333.1:c.260T>G | ENSP00000405931.1:p.Ile87Arg | |
| ENST00000474381.1:n.102T>G | ||
| ENST00000498007.1:n.248T>G | ||
| ENST00000603274.1:n.158A>C | ||
| NM_005514.6:c.227T>G | NP_005505.2:p.Ile76Arg | |
| XM_011514556.1:c.260T>G | XP_011512858.1:p.Ile87Arg | |
| XM_011514557.1:c.227T>G | XP_011512859.1:p.Ile76Arg | |
| XR_926175.1:n.237T>G | ||
| NM_005514.7:c.227T>G | NP_005505.2:p.Ile76Arg | |
| NM_005514.8:c.227T>G MANE Select | NP_005505.2:p.Ile76Arg |