Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220149041C>G , CM000663.2:g.220149041C>G | GRCh38 |
| NC_000001.10:g.220322383C>G , CM000663.1:g.220322383C>G | GRCh37 |
| NC_000001.9:g.218389006C>G | NCBI36 |
| NG_015837.1:g.128461G>C | |
| NG_041799.1:g.59929C>G | |
| NG_015837.2:g.128461G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358951.7:c.*2210G>C MANE Select | ENSP00000351832.2:n.*2210G>C | |
| ENST00000358951.6:c.*2210G>C | ENSP00000351832.2:n.*2210G>C | |
| NM_012414.3:c.*2210G>C | NP_036546.2:n.*2210G>C | |
| NM_012414.4:c.*2210G>C MANE Select | NP_036546.2:n.*2210G>C |