Linked Data
ClinVar Variation Id:
500895
dbSNP Id:
rs987035031
gnomAD v2:
1-2343864-C-T
gnomAD v3:
1-2412425-C-T
gnomAD v4:
1-2412425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2412425C>T , CM000663.2:g.2412425C>T | GRCh38 |
| NC_000001.10:g.2343864C>T , CM000663.1:g.2343864C>T | GRCh37 |
| NC_000001.9:g.2333724C>T | NCBI36 |
| NG_008342.1:g.5147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.78G>A | ENSP00000288774.3:p.Arg26= | |
| ENST00000447513.7:c.78G>A MANE Select | ENSP00000407922.2:p.Arg26= | |
| ENST00000650293.1:c.32G>A | ||
| ENST00000288774.7:c.78G>A | ENSP00000288774.3:p.Arg26= | |
| ENST00000447513.6:c.78G>A | ENSP00000407922.2:p.Arg26= | |
| ENST00000507596.5:c.78G>A | ENSP00000424291.1:p.Arg26= | |
| ENST00000508384.5:c.-321+1172G>A | ENSP00000464289.1:n.-321+1172G>A | |
| ENST00000510434.1:c.78G>A | ENSP00000423051.1:p.Arg26= | |
| ENST00000514502.1:c.78G>A | ENSP00000425924.1:p.Arg26= | |
| NM_002617.3:c.78G>A | NP_002608.1:p.Arg26= | |
| NM_153818.1:c.78G>A | NP_722540.1:p.Arg26= | |
| XM_011541573.1:c.78G>A | XP_011539875.1:p.Arg26= | |
| XM_011541575.1:c.-321+1172G>A | XP_011539877.1:n.-321+1172G>A | |
| XM_011541576.1:c.78G>A | XP_011539878.1:p.Arg26= | |
| XR_946666.1:n.198G>A | ||
| XM_011541576.2:c.78G>A | XP_011539878.1:p.Arg26= | |
| XR_946666.2:n.147G>A | ||
| NM_001374425.1:c.78G>A | NP_001361354.1:p.Arg26= | |
| NM_001374426.1:c.-321+1172G>A | NP_001361355.1:n.-321+1172G>A | |
| NM_001374427.1:c.-321+1172G>A | NP_001361356.1:n.-321+1172G>A | |
| NM_002617.4:c.78G>A MANE Select | NP_002608.1:p.Arg26= | |
| NM_153818.2:c.78G>A | NP_722540.1:p.Arg26= | |
| NR_164636.1:n.231+1172G>A |