Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83134934T>C , CM000669.2:g.83134934T>C | GRCh38 |
| NC_000007.13:g.82764250T>C , CM000669.1:g.82764250T>C | GRCh37 |
| NC_000007.12:g.82602186T>C | NCBI36 |
| NG_047145.1:g.32948A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033026.6:c.2616A>G MANE Select | NP_149015.2:p.Pro872= |
| ENST00000333891.14:c.2616A>G MANE Select | ENSP00000334319.8:p.Pro872= |
| NM_014510.2:c.2616A>G | NP_055325.2:p.Pro872= |
| NM_014510.3:c.2616A>G | NP_055325.2:p.Pro872= |
| NM_033026.5:c.2616A>G | NP_149015.2:p.Pro872= |
| ENST00000333891.13:c.2616A>G | ENSP00000334319.8:p.Pro872= |
| ENST00000423517.6:c.2616A>G | ENSP00000388393.2:p.Pro872= |
| XM_017012006.2:c.2616A>G | XP_016867495.1:p.Pro872= |
| XM_017012007.1:c.2616A>G | XP_016867496.1:p.Pro872= |
| XR_001744643.2:n.4185A>G |