Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570147T>C , CM000664.2:g.149570147T>C | GRCh38 |
| NC_000002.11:g.150426661T>C , CM000664.1:g.150426661T>C | GRCh37 |
| NC_000002.10:g.150134907T>C | NCBI36 |
| NG_009189.1:g.22670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.718A>G MANE Select | ENSP00000301920.5:p.Asn240Asp | |
| ENST00000303319.9:c.718A>G | ENSP00000301920.5:p.Asn240Asp | |
| ENST00000422782.2:c.820A>G | ENSP00000408331.2:p.Asn274Asp | |
| ENST00000428879.5:c.718A>G | ENSP00000389060.1:p.Asn240Asp | |
| NM_015702.2:c.718A>G | NP_056517.1:p.Asn240Asp | |
| NM_015702.3:c.718A>G MANE Select | NP_056517.1:p.Asn240Asp |