Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149571164T>C , CM000664.2:g.149571164T>C | GRCh38 |
| NC_000002.11:g.150427678T>C , CM000664.1:g.150427678T>C | GRCh37 |
| NC_000002.10:g.150135924T>C | NCBI36 |
| NG_009189.1:g.21653A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.617A>G MANE Select | ENSP00000301920.5:p.Asn206Ser | |
| ENST00000303319.9:c.617A>G | ENSP00000301920.5:p.Asn206Ser | |
| ENST00000422782.2:c.719A>G | ENSP00000408331.2:p.Asn240Ser | |
| ENST00000428879.5:c.617A>G | ENSP00000389060.1:p.Asn206Ser | |
| NM_015702.2:c.617A>G | NP_056517.1:p.Asn206Ser | |
| NM_015702.3:c.617A>G MANE Select | NP_056517.1:p.Asn206Ser |