Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149575713T>C , CM000664.2:g.149575713T>C | GRCh38 |
| NC_000002.11:g.150432227T>C , CM000664.1:g.150432227T>C | GRCh37 |
| NC_000002.10:g.150140473T>C | NCBI36 |
| NG_009189.1:g.17104A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015702.3:c.607A>G MANE Select | NP_056517.1:p.Lys203Glu |
| ENST00000303319.10:c.607A>G MANE Select | ENSP00000301920.5:p.Lys203Glu |
| NM_015702.2:c.607A>G | NP_056517.1:p.Lys203Glu |
| ENST00000303319.9:c.607A>G | ENSP00000301920.5:p.Lys203Glu |
| ENST00000422782.2:c.607A>G | ENSP00000408331.2:p.Lys203Glu |
| ENST00000428879.5:c.607A>G | ENSP00000389060.1:p.Lys203Glu |