Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530287T>C , CM000681.2:g.7530287T>C | GRCh38 |
| NC_000019.9:g.7595173T>C , CM000681.1:g.7595173T>C | GRCh37 |
| NC_000019.8:g.7501173T>C | NCBI36 |
| NG_013374.1:g.1136T>C | |
| NG_015806.1:g.12678T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1361T>C MANE Select | ENSP00000264079.5:p.Phe454Ser | |
| ENST00000264079.10:c.1361T>C | ENSP00000264079.5:p.Phe454Ser | |
| ENST00000394321.9:n.1676T>C | ||
| ENST00000594692.1:n.357T>C | ||
| ENST00000595860.5:n.544T>C | ||
| ENST00000599334.1:c.237-148T>C | ||
| NM_020533.2:c.1361T>C | NP_065394.1:p.Phe454Ser | |
| NM_020533.3:c.1361T>C MANE Select | NP_065394.1:p.Phe454Ser |