Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20661341T>C , CM000663.2:g.20661341T>C | GRCh38 |
| NC_000001.10:g.20987834T>C , CM000663.1:g.20987834T>C | GRCh37 |
| NC_000001.9:g.20860421T>C | NCBI36 |
| NG_032064.1:g.5204A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005216.5:c.10A>G MANE Select | NP_005207.3:p.Ser4Gly |
| ENST00000602624.7:c.10A>G MANE Select | ENSP00000473655.2:p.Ser4Gly |
| NM_005216.4:c.61A>G | NP_005207.2:p.Ser21Gly |
| ENST00000375048.7:c.61A>G | ENSP00000364188.3:p.Ser21Gly |
| ENST00000415136.6:c.61A>G | ENSP00000399457.3:p.Ser21Gly |
| ENST00000464364.1:c.10A>G | ENSP00000475634.1:p.Ser4Gly |
| ENST00000477229.1:n.29A>G | |
| ENST00000602624.6:c.10A>G | ENSP00000473655.1:p.Ser4Gly |