Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671200T>C , CM000663.2:g.215671200T>C | GRCh38 |
| NC_000001.10:g.215844542T>C , CM000663.1:g.215844542T>C | GRCh37 |
| NC_000001.9:g.213911165T>C | NCBI36 |
| NG_009497.1:g.757197A>G | |
| NG_009497.2:g.757249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13905A>G MANE Select | ENSP00000305941.3:p.Gln4635= | |
| ENST00000674083.1:c.13905A>G | ENSP00000501296.1:p.Gln4635= | |
| ENST00000307340.7:c.13905A>G | ENSP00000305941.3:p.Gln4635= | |
| NM_206933.2:c.13905A>G | NP_996816.2:p.Gln4635= | |
| NM_206933.3:c.13905A>G | NP_996816.2:p.Gln4635= | |
| NM_206933.4:c.13905A>G MANE Select | NP_996816.3:p.Gln4635= |