Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105150722C>G , CM000676.2:g.105150722C>G | GRCh38 |
| NC_000014.8:g.105617059C>G , CM000676.1:g.105617059C>G | GRCh37 |
| NC_000014.7:g.104688104C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331782.8:c.1484G>C MANE Select | ENSP00000328169.3:p.Cys495Ser | |
| ENST00000331782.7:c.1484G>C | ENSP00000328169.3:p.Cys495Ser | |
| ENST00000347004.2:c.1370G>C | ENSP00000328566.2:p.Cys457Ser | |
| NM_002226.4:c.1484G>C | NP_002217.3:p.Cys495Ser | |
| NM_145159.2:c.1370G>C | NP_660142.1:p.Cys457Ser | |
| XM_011536736.1:c.1484G>C | XP_011535038.1:p.Cys495Ser | |
| XR_001750303.2:n.1545G>C | ||
| NM_002226.5:c.1484G>C MANE Select | NP_002217.3:p.Cys495Ser | |
| NM_145159.3:c.1370G>C | NP_660142.1:p.Cys457Ser |