Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584753T>G , CM000673.2:g.67584753T>G | GRCh38 |
| NC_000011.9:g.67352224T>G , CM000673.1:g.67352224T>G | GRCh37 |
| NC_000011.8:g.67108800T>G | NCBI36 |
| NG_012075.1:g.6159T>G , LRG_723:g.6159T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.213T>G | ENSP00000381604.1:p.Arg71= | |
| ENST00000398606.10:c.213T>G MANE Select | ENSP00000381607.3:p.Arg71= | |
| ENST00000646888.1:c.106T>G | ENSP00000494477.1:p.Ser36Ala | |
| ENST00000398603.5:c.213T>G | ENSP00000381604.1:p.Arg71= | |
| ENST00000398606.7:c.213T>G | ENSP00000381607.3:p.Arg71= | |
| ENST00000489040.1:n.212T>G | ||
| ENST00000494593.1:n.643T>G | ||
| ENST00000498765.5:c.176T>G | ||
| NM_000852.3:c.213T>G , LRG_723t1:c.213T>G | NP_000843.1:p.Arg71= | |
| NM_000852.4:c.213T>G MANE Select | NP_000843.1:p.Arg71= |