Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.13801319C>G , CM000668.2:g.13801319C>G | GRCh38 |
| NC_000006.11:g.13801551C>G , CM000668.1:g.13801551C>G | GRCh37 |
| NC_000006.10:g.13909530C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001031713.4:c.710G>C MANE Select | NP_001026883.1:p.Ser237Thr |
| ENST00000379170.9:c.710G>C MANE Select | ENSP00000368468.3:p.Ser237Thr |
| NM_001031713.3:c.710G>C | NP_001026883.1:p.Ser237Thr |
| ENST00000379170.8:c.710G>C | ENSP00000368468.3:p.Ser237Thr |
| ENST00000488770.1:c.*522G>C | ENSP00000476162.1:n.*522G>C |
| ENST00000607303.1:c.27G>C | |
| XM_011514802.1:c.710G>C | XP_011513104.1:p.Ser237Thr |
| XR_001743579.2:n.844G>C |