Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640796A>G , CM000663.2:g.215640796A>G | GRCh38 |
| NC_000001.10:g.215814138A>G , CM000663.1:g.215814138A>G | GRCh37 |
| NC_000001.9:g.213880761A>G | NCBI36 |
| NG_009497.1:g.787601T>C | |
| NG_009497.2:g.787653T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14792-62T>C MANE Select | ENSP00000305941.3:n.14792-62T>C | |
| ENST00000674083.1:c.14792-62T>C | ENSP00000501296.1:n.14792-62T>C | |
| ENST00000307340.7:c.14792-62T>C | ENSP00000305941.3:n.14792-62T>C | |
| NM_206933.2:c.14792-62T>C | NP_996816.2:n.14792-62T>C | |
| NM_206933.3:c.14792-62T>C | NP_996816.2:n.14792-62T>C | |
| NM_206933.4:c.14792-62T>C MANE Select | NP_996816.3:n.14792-62T>C |