Linked Data
dbSNP Id:
rs775289125
ExAC:
15:40270304 A / G
gnomAD v2:
15-40270304-A-G
gnomAD v3:
15-39978103-A-G
gnomAD v4:
15-39978103-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39978103A>G , CM000677.2:g.39978103A>G | GRCh38 |
| NC_000015.9:g.40270304A>G , CM000677.1:g.40270304A>G | GRCh37 |
| NC_000015.8:g.38057596A>G | NCBI36 |
| NG_034053.1:g.48980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.2275A>G MANE Select | ENSP00000263791.5:p.Ile759Val | |
| ENST00000263791.9:c.2275A>G | ENSP00000263791.5:p.Ile759Val | |
| ENST00000560855.5:c.1691A>G | ||
| ENST00000624709.1:n.1125A>G | ||
| NM_001013703.3:c.2275A>G | NP_001013725.2:p.Ile759Val | |
| XM_005254392.1:c.2275A>G | XP_005254449.1:p.Ile759Val | |
| XM_011521599.1:c.2275A>G | XP_011519901.1:p.Ile759Val | |
| XM_011521600.1:c.2275A>G | XP_011519902.1:p.Ile759Val | |
| XM_005254392.3:c.2275A>G | XP_005254449.1:p.Ile759Val | |
| XM_011521599.2:c.2275A>G | XP_011519901.1:p.Ile759Val | |
| XM_011521600.3:c.2275A>G | XP_011519902.1:p.Ile759Val | |
| XM_017022219.2:c.2275A>G | XP_016877708.1:p.Ile759Val | |
| NM_001013703.4:c.2275A>G MANE Select | NP_001013725.2:p.Ile759Val |