Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150297715G>C , CM000667.2:g.150297715G>C | GRCh38 |
| NC_000005.9:g.149677278G>C , CM000667.1:g.149677278G>C | GRCh37 |
| NC_000005.8:g.149657471G>C | NCBI36 |
| NG_051250.1:g.10248C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001012301.4:c.1209C>G MANE Select | NP_001012301.1:p.Ser403= |
| ENST00000328668.8:c.1209C>G MANE Select | ENSP00000333395.7:p.Ser403= |
| NM_001012301.2:c.1209C>G | NP_001012301.1:p.Ser403= |
| NM_001012301.3:c.1209C>G | NP_001012301.1:p.Ser403= |
| ENST00000328668.7:c.1209C>G | ENSP00000333395.7:p.Ser403= |
| ENST00000515301.2:c.780C>G | ENSP00000426879.2:p.Ser260= |