Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030242A>T , CM000664.2:g.86030242A>T | GRCh38 |
| NC_000002.11:g.86257365A>T , CM000664.1:g.86257365A>T | GRCh37 |
| NC_000002.10:g.86110876A>T | NCBI36 |
| NG_050742.2:g.80914T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4733T>A MANE Select | ENSP00000263857.6:p.Leu1578Gln | |
| ENST00000263857.10:c.4733T>A | ENSP00000263857.6:p.Leu1578Gln | |
| ENST00000409681.1:c.4550T>A | ENSP00000386300.1:p.Leu1517Gln | |
| NM_015425.3:c.4733T>A | NP_056240.2:p.Leu1578Gln | |
| XM_006711983.2:c.4409T>A | XP_006712046.1:p.Leu1470Gln | |
| NM_015425.5:c.4733T>A | NP_056240.2:p.Leu1578Gln | |
| NM_015425.6:c.4733T>A MANE Select | NP_056240.2:p.Leu1578Gln |