Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648598C>G , CM000663.2:g.215648598C>G | GRCh38 |
| NC_000001.10:g.215821940C>G , CM000663.1:g.215821940C>G | GRCh37 |
| NC_000001.9:g.213888563C>G | NCBI36 |
| NG_009497.1:g.779799G>C | |
| NG_009497.2:g.779851G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14512G>C MANE Select | NP_996816.3:p.Gly4838Arg |
| ENST00000307340.8:c.14512G>C MANE Select | ENSP00000305941.3:p.Gly4838Arg |
| NM_206933.2:c.14512G>C | NP_996816.2:p.Gly4838Arg |
| NM_206933.3:c.14512G>C | NP_996816.2:p.Gly4838Arg |
| ENST00000307340.7:c.14512G>C | ENSP00000305941.3:p.Gly4838Arg |
| ENST00000674083.1:c.14512G>C | ENSP00000501296.1:p.Gly4838Arg |