Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417093T>C , CM000678.2:g.23417093T>C | GRCh38 |
| NC_000016.9:g.23428414T>C , CM000678.1:g.23428414T>C | GRCh37 |
| NC_000016.8:g.23335915T>C | NCBI36 |
| NG_021287.1:g.41099A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1166A>G MANE Select | ENSP00000305442.5:p.Gln389Arg | |
| ENST00000307149.9:c.1166A>G | ENSP00000305442.5:p.Gln389Arg | |
| ENST00000567821.1:n.201A>G | ||
| NM_153603.3:c.1166A>G | NP_705831.1:p.Gln389Arg | |
| XR_429680.1:n.1382A>G | ||
| XM_017023870.1:c.971A>G | XP_016879359.1:p.Gln324Arg | |
| XR_002957852.1:n.1387A>G | ||
| XR_429680.2:n.1387A>G | ||
| NM_153603.4:c.1166A>G MANE Select | NP_705831.1:p.Gln389Arg |