Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161416969G>C , CM000664.2:g.161416969G>C | GRCh38 |
| NC_000002.11:g.162273480G>C , CM000664.1:g.162273480G>C | GRCh37 |
| NC_000002.10:g.161981726G>C | NCBI36 |
| NG_046904.1:g.5861G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.559G>C MANE Select | NP_006584.1:p.Ala187Pro |
| ENST00000389554.8:c.559G>C MANE Select | ENSP00000374205.3:p.Ala187Pro |
| NM_006593.2:c.559G>C | NP_006584.1:p.Ala187Pro |
| NM_006593.3:c.559G>C | NP_006584.1:p.Ala187Pro |
| ENST00000389554.7:c.559G>C | ENSP00000374205.3:p.Ala187Pro |
| ENST00000463544.1:n.639G>C |