Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49628066T>C , CM000676.2:g.49628066T>C | GRCh38 |
| NC_000014.8:g.50094784T>C , CM000676.1:g.50094784T>C | GRCh37 |
| NC_000014.7:g.49164534T>C | NCBI36 |
| NG_013070.1:g.12165A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018139.3:c.1953A>G MANE Select | NP_060609.2:p.Pro651= |
| ENST00000298292.13:c.1953A>G MANE Select | ENSP00000298292.8:p.Pro651= |
| NM_001083908.1:c.1864-2018A>G | NP_001077377.1:n.1864-2018A>G |
| NM_001083908.2:c.1864-2018A>G | NP_001077377.1:n.1864-2018A>G |
| NM_001378453.1:c.-204-2018A>G | NP_001365382.1:n.-204-2018A>G |
| NM_018139.2:c.1953A>G | NP_060609.2:p.Pro651= |
| ENST00000298292.12:c.1953A>G | ENSP00000298292.8:p.Pro651= |
| ENST00000406043.3:c.1864-2018A>G | ENSP00000384862.3:n.1864-2018A>G |