Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196691G>T , CM000679.2:g.73196691G>T | GRCh38 |
| NC_000017.10:g.71192830G>T , CM000679.1:g.71192830G>T | GRCh37 |
| NC_000017.9:g.68704425G>T | NCBI36 |
| NG_008971.1:g.8658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.500G>T MANE Select | ENSP00000299886.4:p.Ser167Ile | |
| ENST00000299886.8:c.500G>T | ENSP00000299886.4:p.Ser167Ile | |
| ENST00000438720.7:c.498G>T | ||
| ENST00000582587.2:c.497G>T | ||
| ENST00000618996.4:c.500G>T | ENSP00000479450.1:p.Ser167Ile | |
| NM_018714.2:c.500G>T | NP_061184.1:p.Ser167Ile | |
| NM_018714.3:c.500G>T MANE Select | NP_061184.1:p.Ser167Ile |