Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23802496G>C , CM000663.2:g.23802496G>C | GRCh38 |
| NC_000001.10:g.24128986G>C , CM000663.1:g.24128986G>C | GRCh37 |
| NC_000001.9:g.24001573G>C | NCBI36 |
| NG_007068.1:g.3309C>G | |
| NG_013061.1:g.27964C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.945C>G MANE Select | ENSP00000363614.3:p.Ser315Arg | |
| ENST00000235958.4:c.515C>G | ||
| ENST00000374487.6:c.*986C>G | ENSP00000363611.2:n.*986C>G | |
| ENST00000374490.7:c.945C>G | ENSP00000363614.3:p.Ser315Arg | |
| ENST00000436439.6:c.732C>G | ENSP00000389281.2:p.Ser244Arg | |
| NM_000191.2:c.945C>G | NP_000182.2:p.Ser315Arg | |
| NM_001166059.1:c.732C>G | NP_001159531.1:p.Ser244Arg | |
| NM_000191.3:c.945C>G MANE Select | NP_000182.2:p.Ser315Arg | |
| NM_001166059.2:c.732C>G | NP_001159531.1:p.Ser244Arg |