Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150297677T>G , CM000667.2:g.150297677T>G | GRCh38 |
| NC_000005.9:g.149677240T>G , CM000667.1:g.149677240T>G | GRCh37 |
| NC_000005.8:g.149657433T>G | NCBI36 |
| NG_051250.1:g.10286A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001012301.4:c.1247A>C MANE Select | NP_001012301.1:p.Gln416Pro |
| ENST00000328668.8:c.1247A>C MANE Select | ENSP00000333395.7:p.Gln416Pro |
| NM_001012301.2:c.1247A>C | NP_001012301.1:p.Gln416Pro |
| NM_001012301.3:c.1247A>C | NP_001012301.1:p.Gln416Pro |
| ENST00000328668.7:c.1247A>C | ENSP00000333395.7:p.Gln416Pro |
| ENST00000515301.2:c.818A>C | ENSP00000426879.2:p.Gln273Pro |