Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10021323T>G , CM000681.2:g.10021323T>G | GRCh38 |
| NC_000019.9:g.10131999T>G , CM000681.1:g.10131999T>G | GRCh37 |
| NC_000019.8:g.9992999T>G | NCBI36 |
| NG_033979.1:g.13075T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015725.4:c.605T>G MANE Select | NP_056540.3:p.Met202Arg |
| ENST00000591589.3:c.605T>G MANE Select | ENSP00000466058.2:p.Met202Arg |
| NM_015725.2:c.665T>G | NP_056540.2:p.Met222Arg |
| NM_015725.3:c.605T>G | NP_056540.3:p.Met202Arg |
| ENST00000587782.1:c.50T>G | |
| ENST00000591589.1:c.665T>G | ENSP00000466058.1:p.Met222Arg |
| ENST00000651512.1:c.665T>G | ENSP00000498711.1:p.Met222Arg |