Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8072877T>G , CM000679.2:g.8072877T>G | GRCh38 |
| NC_000017.10:g.7976195T>G , CM000679.1:g.7976195T>G | GRCh37 |
| NC_000017.9:g.7916920T>G | NCBI36 |
| NG_007099.1:g.19827A>C | |
| NG_007099.2:g.19840A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.2000A>C MANE Select | NP_001130.1:p.Gln667Pro |
| ENST00000647874.1:c.2000A>C MANE Select | ENSP00000497784.1:p.Gln667Pro |
| NM_001139.2:c.2000A>C | NP_001130.1:p.Gln667Pro |
| ENST00000319144.4:c.2000A>C | ENSP00000315167.4:p.Gln667Pro |
| ENST00000649809.1:c.1064A>C | ENSP00000496845.1:p.Gln355Pro |
| ENST00000650441.1:n.423A>C |