Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73477175C>G , CM000669.2:g.73477175C>G | GRCh38 |
| NC_000007.13:g.72891505C>G , CM000669.1:g.72891505C>G | GRCh37 |
| NC_000007.12:g.72529441C>G | NCBI36 |
| NG_027679.1:g.50111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.2286G>C MANE Select | ENSP00000342434.4:p.Val762= | |
| ENST00000339594.8:c.2286G>C | ENSP00000342434.4:p.Val762= | |
| ENST00000404251.1:c.2286G>C | ENSP00000385442.1:p.Val762= | |
| NM_032408.3:c.2286G>C | NP_115784.1:p.Val762= | |
| XM_005250683.2:c.2286G>C | XP_005250740.2:p.Val762= | |
| XM_017012773.2:c.2286G>C | XP_016868262.1:p.Val762= | |
| XR_001744892.2:n.2404G>C | ||
| NM_032408.4:c.2286G>C MANE Select | NP_115784.1:p.Val762= | |
| NM_001370402.1:c.2286G>C | NP_001357331.1:p.Val762= |