Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130875035T>G , CM000671.2:g.130875035T>G | GRCh38 |
| NC_000009.11:g.133750422T>G , CM000671.1:g.133750422T>G | GRCh37 |
| NC_000009.10:g.132740243T>G | NCBI36 |
| NG_012034.1:g.166155T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005157.6:c.1253T>G MANE Select | NP_005148.2:p.Ile418Ser |
| ENST00000318560.6:c.1253T>G MANE Select | ENSP00000323315.5:p.Ile418Ser |
| NM_005157.5:c.1253T>G | NP_005148.2:p.Ile418Ser |
| NM_007313.2:c.1310T>G | NP_009297.2:p.Ile437Ser |
| NM_007313.3:c.1310T>G | NP_009297.2:p.Ile437Ser |
| ENST00000318560.5:c.1253T>G | ENSP00000323315.5:p.Ile418Ser |
| ENST00000372348.6:c.1310T>G | ENSP00000361423.2:p.Ile437Ser |
| ENST00000372348.7:c.1310T>G | ENSP00000361423.2:p.Ile437Ser |
| ENST00000372348.9:c.1310T>G | ENSP00000361423.2:p.Ile437Ser |