Linked Data
gnomAD v4:
2-70831789-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831789T>A , CM000664.2:g.70831789T>A | GRCh38 |
| NC_000002.11:g.71058920T>A , CM000664.1:g.71058920T>A | GRCh37 |
| NC_000002.10:g.70912428T>A | NCBI36 |
| NG_033914.1:g.9035A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.748A>T MANE Select | ENSP00000386378.3:p.Ile250Phe | |
| ENST00000410009.4:c.748A>T | ENSP00000386378.3:p.Ile250Phe | |
| NM_015717.4:c.748A>T | NP_056532.4:p.Ile250Phe | |
| XM_011532874.1:c.748A>T | XP_011531176.1:p.Ile250Phe | |
| XM_011532875.1:c.748A>T | XP_011531177.1:p.Ile250Phe | |
| XM_011532876.1:c.748A>T | XP_011531178.1:p.Ile250Phe | |
| XM_011532875.2:c.748A>T | XP_011531177.1:p.Ile250Phe | |
| XM_011532876.2:c.748A>T | XP_011531178.1:p.Ile250Phe | |
| NM_015717.5:c.748A>T MANE Select | NP_056532.4:p.Ile250Phe |