Linked Data
dbSNP Id:
rs1382499821
gnomAD v2:
15-89866726-G-A
gnomAD v3:
15-89323495-G-A
gnomAD v4:
15-89323495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323495G>A , CM000677.2:g.89323495G>A | GRCh38 |
| NC_000015.9:g.89866726G>A , CM000677.1:g.89866726G>A | GRCh37 |
| NC_000015.8:g.87667730G>A | NCBI36 |
| NG_008218.1:g.16301C>T | |
| NG_008218.2:g.16301C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2174C>T | ENSP00000516154.1:p.Pro725Leu | |
| ENST00000268124.11:c.2174C>T MANE Select | ENSP00000268124.5:p.Pro725Leu | |
| ENST00000530292.3:c.1775C>T | ENSP00000432885.2:p.Pro592Leu | |
| ENST00000635986.2:c.2174C>T | ENSP00000490653.2:p.Pro725Leu | |
| ENST00000636774.1:c.*741C>T | ENSP00000489799.1:n.*741C>T | |
| ENST00000637238.1:c.871C>T | ENSP00000490756.1:n.871C>T | |
| ENST00000637264.1:c.1246C>T | ||
| ENST00000666746.1:c.1751C>T | ||
| ENST00000670281.1:c.494C>T | ENSP00000499709.1:p.Pro165Leu | |
| ENST00000672071.1:n.2372C>T | ||
| ENST00000672923.2:n.2277C>T | ||
| ENST00000268124.9:c.2174C>T | ENSP00000268124.5:p.Pro725Leu | |
| ENST00000442287.6:c.2174C>T | ENSP00000399851.2:p.Pro725Leu | |
| ENST00000526314.2:c.539+320C>T | ||
| ENST00000526398.1:c.323C>T | ||
| ENST00000532584.5:n.376C>T | ||
| ENST00000631044.2:c.*1598C>T | ENSP00000486730.1:n.*1598C>T | |
| NM_001126131.1:c.2174C>T | NP_001119603.1:p.Pro725Leu | |
| NM_002693.2:c.2174C>T | NP_002684.1:p.Pro725Leu | |
| NM_001126131.2:c.2174C>T | NP_001119603.1:p.Pro725Leu | |
| NM_002693.3:c.2174C>T MANE Select | NP_002684.1:p.Pro725Leu |