Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128309333T>C , CM000667.2:g.128309333T>C | GRCh38 |
| NC_000005.9:g.127645025T>C , CM000667.1:g.127645025T>C | GRCh37 |
| NC_000005.8:g.127672924T>C | NCBI36 |
| NG_008750.1:g.233711A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.5267A>G MANE Select | NP_001990.2:p.Asn1756Ser |
| ENST00000262464.9:c.5267A>G MANE Select | ENSP00000262464.4:p.Asn1756Ser |
| NM_001999.3:c.5267A>G | NP_001990.2:p.Asn1756Ser |
| ENST00000262464.8:c.5267A>G | ENSP00000262464.4:p.Asn1756Ser |
| ENST00000508053.5:c.5267A>G | ENSP00000424571.1:p.Asn1756Ser |
| ENST00000619499.4:c.5264A>G | ENSP00000482132.1:p.Asn1755Ser |
| ENST00000703783.1:n.2051A>G | |
| ENST00000703785.1:n.1970A>G | |
| XM_017009228.2:c.5114A>G | XP_016864717.1:p.Asn1705Ser |