Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421860A>G , CM000671.2:g.101421860A>G | GRCh38 |
| NC_000009.11:g.104184142A>G , CM000671.1:g.104184142A>G | GRCh37 |
| NC_000009.10:g.103223963A>G | NCBI36 |
| NG_012387.1:g.18921T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000035.4:c.1044T>C MANE Select | NP_000026.2:p.Ser348= |
| ENST00000647789.2:c.1044T>C MANE Select | ENSP00000497767.1:p.Ser348= |
| NM_000035.3:c.1044T>C | NP_000026.2:p.Ser348= |
| ENST00000374855.8:c.1044T>C | ENSP00000363988.4:p.Ser348= |
| ENST00000616752.1:c.*56T>C | ENSP00000481363.1:n.*56T>C |
| ENST00000648064.1:c.1044T>C | ENSP00000497990.1:p.Ser348= |
| ENST00000648758.1:c.1044T>C | ENSP00000497731.1:p.Ser348= |