Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89206734T>C , CM000672.2:g.89206734T>C | GRCh38 |
| NC_000010.10:g.90966491T>C , CM000672.1:g.90966491T>C | GRCh37 |
| NC_000010.9:g.90956471T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371852.4:c.559A>G MANE Select | ENSP00000360918.2:p.Met187Val | |
| ENST00000371852.3:c.559A>G | ENSP00000360918.2:p.Met187Val | |
| NM_003956.3:c.559A>G | NP_003947.1:p.Met187Val | |
| NM_003956.4:c.559A>G MANE Select | NP_003947.1:p.Met187Val |