Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411941T>C , CM000685.2:g.38411941T>C | GRCh38 |
| NC_000023.10:g.38271194T>C , CM000685.1:g.38271194T>C | GRCh37 |
| NC_000023.9:g.38156138T>C | NCBI36 |
| NG_008471.1:g.64459T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.947T>C MANE Select | NP_000522.3:p.Phe316Ser |
| ENST00000039007.5:c.947T>C MANE Select | ENSP00000039007.4:p.Phe316Ser |
| NM_000531.5:c.947T>C | NP_000522.3:p.Phe316Ser |
| ENST00000039007.4:c.947T>C | ENSP00000039007.4:p.Phe316Ser |
| ENST00000465127.1:c.172-254180T>C | ENSP00000417050.1:n.172-254180T>C |
| ENST00000643344.1:c.*697T>C | ENSP00000496606.1:n.*697T>C |