Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9102751T>C , CM000680.2:g.9102751T>C | GRCh38 |
| NC_000018.9:g.9102749T>C , CM000680.1:g.9102749T>C | GRCh37 |
| NC_000018.8:g.9092749T>C | NCBI36 |
| NG_013355.1:g.5122T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.8T>C MANE Select | ENSP00000327268.6:p.Phe3Ser | |
| ENST00000318388.10:c.8T>C | ENSP00000327268.6:p.Phe3Ser | |
| ENST00000497577.2:c.8T>C | ENSP00000464504.1:p.Phe3Ser | |
| ENST00000577703.1:c.8T>C | ENSP00000461911.1:p.Phe3Ser | |
| NM_021074.4:c.8T>C | NP_066552.2:p.Phe3Ser | |
| XR_243808.1:n.110T>C | ||
| XR_002958175.1:n.110T>C | ||
| XR_243808.3:n.25T>C | ||
| NM_021074.5:c.8T>C MANE Select | NP_066552.2:p.Phe3Ser |