Linked Data
dbSNP Id:
rs780969715
gnomAD v2:
15-28096615-C-A
gnomAD v3:
15-27851469-C-A
gnomAD v4:
15-27851469-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851469C>A , CM000677.2:g.27851469C>A | GRCh38 |
| NC_000015.9:g.28096615C>A , CM000677.1:g.28096615C>A | GRCh37 |
| NC_000015.8:g.25770210C>A | NCBI36 |
| NG_009846.1:g.252844G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2251G>T MANE Select | ENSP00000346659.3:p.Val751Leu | |
| ENST00000353809.9:c.2179G>T | ENSP00000261276.8:p.Val727Leu | |
| ENST00000354638.7:c.2251G>T | ENSP00000346659.3:p.Val751Leu | |
| NM_000275.2:c.2251G>T | NP_000266.2:p.Val751Leu | |
| NM_001300984.1:c.2179G>T | NP_001287913.1:p.Val727Leu | |
| XM_011521639.1:c.2317G>T | XP_011519941.1:p.Val773Leu | |
| XM_011521640.1:c.2293G>T | XP_011519942.1:p.Val765Leu | |
| XM_011521641.1:c.2275G>T | XP_011519943.1:p.Val759Leu | |
| XM_011521642.1:c.2245G>T | XP_011519944.1:p.Val749Leu | |
| XM_011521643.1:c.2203G>T | XP_011519945.1:p.Val735Leu | |
| XM_011521644.1:c.2179G>T | XP_011519946.1:p.Val727Leu | |
| XM_011521645.1:c.2110G>T | XP_011519947.1:p.Val704Leu | |
| XM_011521640.2:c.2293G>T | XP_011519942.1:p.Val765Leu | |
| XM_017022255.1:c.2317G>T | XP_016877744.1:p.Val773Leu | |
| XM_017022256.1:c.2275G>T | XP_016877745.1:p.Val759Leu | |
| XM_017022257.1:c.2245G>T | XP_016877746.1:p.Val749Leu | |
| XM_017022258.1:c.2275G>T | XP_016877747.1:p.Val759Leu | |
| XM_017022259.1:c.2203G>T | XP_016877748.1:p.Val735Leu | |
| XM_017022260.1:c.2179G>T | XP_016877749.1:p.Val727Leu | |
| XM_017022261.1:c.2122G>T | XP_016877750.1:p.Val708Leu | |
| XM_017022262.1:c.2268+19685G>T | XP_016877751.1:n.2268+19685G>T | |
| XM_017022263.1:c.2110G>T | XP_016877752.1:p.Val704Leu | |
| XM_017022264.1:c.2110G>T | XP_016877753.1:p.Val704Leu | |
| NM_000275.3:c.2251G>T MANE Select | NP_000266.2:p.Val751Leu | |
| NM_001300984.2:c.2179G>T | NP_001287913.1:p.Val727Leu |