Linked Data
ClinVar Variation Id:
374140
dbSNP Id:
rs140845195
ExAC:
5:125880712 C / A
gnomAD v2:
5-125880712-C-A
gnomAD v3:
5-126545020-C-A
gnomAD v4:
5-126545020-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126545020C>A , CM000667.2:g.126545020C>A | GRCh38 |
| NC_000005.9:g.125880712C>A , CM000667.1:g.125880712C>A | GRCh37 |
| NC_000005.8:g.125908611C>A | NCBI36 |
| NG_008600.2:g.55371G>T | |
| NG_008600.3:g.55371G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1566-1G>T MANE Select | ENSP00000387123.3:n.1566-1G>T | |
| ENST00000458249.6:c.*1475-1G>T | ENSP00000403929.1:n.*1475-1G>T | |
| ENST00000485852.7:n.313-1G>T | ||
| ENST00000497231.7:n.1993-1G>T | ||
| ENST00000635851.1:c.1563+1304G>T | ||
| ENST00000636286.1:n.1331-1G>T | ||
| ENST00000636482.1:n.1100-1G>T | ||
| ENST00000636743.1:c.1446-1G>T | ENSP00000489725.1:n.1446-1G>T | |
| ENST00000636808.1:c.*1375-1G>T | ENSP00000490833.1:n.*1375-1G>T | |
| ENST00000636872.1:c.1726-1G>T | ENSP00000490919.1:n.1726-1G>T | |
| ENST00000636879.1:c.1611-1G>T | ENSP00000490811.1:n.1611-1G>T | |
| ENST00000636886.1:c.1365-1G>T | ENSP00000490371.1:n.1365-1G>T | |
| ENST00000637206.1:c.1386-1G>T | ENSP00000489895.1:n.1386-1G>T | |
| ENST00000637272.1:c.1557-1G>T | ENSP00000489686.1:n.1557-1G>T | |
| ENST00000637292.1:c.1022-1G>T | ||
| ENST00000637782.1:c.1565+1304G>T | ENSP00000490024.1:n.1565+1304G>T | |
| ENST00000638008.1:c.*1410-1G>T | ENSP00000490400.1:n.*1410-1G>T | |
| ENST00000638010.1:n.1512-1G>T | ||
| ENST00000409134.7:c.1566-1G>T | ENSP00000387123.3:n.1566-1G>T | |
| ENST00000447989.6:c.1455-1G>T | ENSP00000414132.2:n.1455-1G>T | |
| ENST00000485852.6:n.313-1G>T | ||
| ENST00000497231.6:n.1776-1G>T | ||
| ENST00000553117.5:c.1374-1G>T | ENSP00000448593.1:n.1374-1G>T | |
| NM_001182.4:c.1566-1G>T | NP_001173.2:n.1566-1G>T | |
| NM_001201377.1:c.1482-1G>T | NP_001188306.1:n.1482-1G>T | |
| NM_001202404.1:c.1455-1G>T | NP_001189333.1:n.1455-1G>T | |
| XM_011543417.1:c.1161-1G>T | XP_011541719.1:n.1161-1G>T | |
| XM_011543417.2:c.1161-1G>T | XP_011541719.1:n.1161-1G>T | |
| NM_001182.5:c.1566-1G>T MANE Select | NP_001173.2:n.1566-1G>T | |
| NM_001201377.2:c.1482-1G>T | NP_001188306.1:n.1482-1G>T | |
| NM_001202404.2:c.1374-1G>T | NP_001189333.2:n.1374-1G>T |