Linked Data
ClinVar Variation Id:
259238
dbSNP Id:
rs73948789
ExAC:
2:74605383 C / A
gnomAD v2:
2-74605383-C-A
gnomAD v3:
2-74378256-C-A
gnomAD v4:
2-74378256-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74378256C>A , CM000664.2:g.74378256C>A | GRCh38 |
| NC_000002.11:g.74605383C>A , CM000664.1:g.74605383C>A | GRCh37 |
| NC_000002.10:g.74458891C>A | NCBI36 |
| NG_008735.2:g.18832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.34-11G>T | ENSP00000354791.4:n.34-11G>T | |
| ENST00000628224.3:c.34-11G>T MANE Select | ENSP00000487279.2:n.34-11G>T | |
| ENST00000680606.1:c.-18-11G>T | ENSP00000505612.1:n.-18-11G>T | |
| ENST00000361874.7:c.34-11G>T | ENSP00000354791.3:n.34-11G>T | |
| ENST00000394003.7:c.34-11G>T | ENSP00000377571.3:n.34-11G>T | |
| ENST00000409240.5:c.-18-11G>T | ENSP00000386406.1:n.-18-11G>T | |
| ENST00000409567.7:c.34-11G>T | ENSP00000386843.3:n.34-11G>T | |
| ENST00000409868.5:c.-18-11G>T | ENSP00000387327.1:n.-18-11G>T | |
| ENST00000413111.5:c.-18-11G>T | ENSP00000413268.1:n.-18-11G>T | |
| ENST00000417090.1:c.46-11G>T | ENSP00000402509.1:n.46-11G>T | |
| ENST00000421392.1:c.-18-11G>T | ENSP00000409363.1:n.-18-11G>T | |
| ENST00000434055.5:c.-18-11G>T | ENSP00000416711.1:n.-18-11G>T | |
| ENST00000437375.1:c.-18-11G>T | ENSP00000395312.1:n.-18-11G>T | |
| ENST00000440727.1:c.-18-11G>T | ENSP00000400059.1:n.-18-11G>T | |
| ENST00000449655.1:c.-18-11G>T | ENSP00000407484.1:n.-18-11G>T | |
| ENST00000454119.5:c.-18-11G>T | ENSP00000404038.1:n.-18-11G>T | |
| ENST00000458655.5:c.55-11G>T | ENSP00000414315.1:n.55-11G>T | |
| ENST00000628224.2:c.-18-11G>T | ENSP00000487279.1:n.-18-11G>T | |
| NM_001135040.2:c.34-11G>T | NP_001128512.1:n.34-11G>T | |
| NM_001190836.1:c.-18-11G>T | NP_001177765.1:n.-18-11G>T | |
| NM_001190837.1:c.34-11G>T | NP_001177766.1:n.34-11G>T | |
| NM_004082.4:c.34-11G>T | NP_004073.2:n.34-11G>T | |
| NR_033935.1:n.295-11G>T | ||
| NM_001135040.3:c.34-11G>T | NP_001128512.1:n.34-11G>T | |
| NM_001190836.2:c.-18-11G>T | NP_001177765.1:n.-18-11G>T | |
| NM_001190837.2:c.34-11G>T | NP_001177766.1:n.34-11G>T | |
| NM_001378991.1:c.-18-11G>T | NP_001365920.1:n.-18-11G>T | |
| NM_001378992.1:c.-18-11G>T | NP_001365921.1:n.-18-11G>T | |
| NM_004082.5:c.34-11G>T MANE Select | NP_004073.2:n.34-11G>T | |
| NR_033935.2:n.74-11G>T |