Linked Data
dbSNP Id:
rs765604843
ExAC:
17:13980240 G / T
gnomAD v2:
17-13980240-G-T
gnomAD v4:
17-14076923-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076923G>T , CM000679.2:g.14076923G>T | GRCh38 |
| NC_000017.10:g.13980240G>T , CM000679.1:g.13980240G>T | GRCh37 |
| NC_000017.9:g.13920965G>T | NCBI36 |
| NG_008034.1:g.12522G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.366G>T MANE Select | ENSP00000261643.3:p.Glu122Asp | |
| ENST00000664217.1:c.366G>T | ENSP00000499396.1:p.Glu122Asp | |
| ENST00000670279.1:c.366G>T | ENSP00000499450.1:p.Glu122Asp | |
| ENST00000261643.7:c.366G>T | ENSP00000261643.3:p.Glu122Asp | |
| ENST00000429152.6:c.366G>T | ENSP00000397750.2:p.Glu122Asp | |
| ENST00000580561.1:c.177+2467G>T | ENSP00000462190.1:n.177+2467G>T | |
| ENST00000581931.5:c.366G>T | ENSP00000462512.1:p.Glu122Asp | |
| NM_001303.3:c.366G>T | NP_001294.2:p.Glu122Asp | |
| XM_005256458.1:c.366G>T | XP_005256515.1:p.Glu122Asp | |
| XM_011523657.1:c.366G>T | XP_011521959.1:p.Glu122Asp | |
| XM_011523658.1:c.-86G>T | XP_011521960.1:n.-86G>T | |
| XR_933974.1:n.469G>T | ||
| XR_933975.1:n.469G>T | ||
| NM_001303.4:c.366G>T MANE Select | NP_001294.2:p.Glu122Asp |