Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527565G>T , CM000681.2:g.7527565G>T | GRCh38 |
| NC_000019.9:g.7592451G>T , CM000681.1:g.7592451G>T | GRCh37 |
| NC_000019.8:g.7498451G>T | NCBI36 |
| NG_015806.1:g.9956G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.617G>T MANE Select | ENSP00000264079.5:p.Ser206Ile | |
| ENST00000264079.10:c.617G>T | ENSP00000264079.5:p.Ser206Ile | |
| ENST00000394321.9:n.697G>T | ||
| ENST00000598406.1:n.438G>T | ||
| ENST00000601003.1:c.572-299G>T | ENSP00000469074.1:n.572-299G>T | |
| NM_020533.2:c.617G>T | NP_065394.1:p.Ser206Ile | |
| NM_020533.3:c.617G>T MANE Select | NP_065394.1:p.Ser206Ile |