Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118099G>T , CM000685.2:g.78118099G>T | GRCh38 |
| NC_000023.10:g.77373596G>T , CM000685.1:g.77373596G>T | GRCh37 |
| NC_000023.9:g.77260252G>T | NCBI36 |
| NG_008862.1:g.18931G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.570G>T MANE Select | ENSP00000362413.4:p.Met190Ile | |
| ENST00000644362.1:c.486G>T | ENSP00000496140.1:p.Met162Ile | |
| ENST00000373316.4:c.570G>T | ENSP00000362413.4:p.Met190Ile | |
| ENST00000491291.1:n.562G>T | ||
| NM_000291.3:c.570G>T | NP_000282.1:p.Met190Ile | |
| NM_000291.4:c.570G>T MANE Select | NP_000282.1:p.Met190Ile |