Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75063978T>C , CM000679.2:g.75063978T>C | GRCh38 |
| NC_000017.10:g.73060073T>C , CM000679.1:g.73060073T>C | GRCh37 |
| NC_000017.9:g.70571668T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322444.7:c.*931T>C MANE Select | ENSP00000312814.6:n.*931T>C | |
| ENST00000322444.6:c.*931T>C | ENSP00000312814.6:n.*931T>C | |
| ENST00000375286.7:c.*1379T>C | ENSP00000364435.3:n.*1379T>C | |
| NM_015353.2:c.*931T>C | NP_056168.1:n.*931T>C | |
| NR_110834.1:n.1671T>C | ||
| NR_110835.1:n.1753T>C | ||
| NM_015353.3:c.*931T>C MANE Select | NP_056168.1:n.*931T>C | |
| NR_110834.2:n.1630T>C | ||
| NR_110835.2:n.1749T>C |