Linked Data
dbSNP Id:
rs890068968
gnomAD v2:
1-230849877-G-A
gnomAD v3:
1-230714131-G-A
gnomAD v4:
1-230714131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230714131G>A , CM000663.2:g.230714131G>A | GRCh38 |
| NC_000001.10:g.230849877G>A , CM000663.1:g.230849877G>A | GRCh37 |
| NC_000001.9:g.228916500G>A | NCBI36 |
| NG_008836.1:g.5460C>T | |
| NG_008836.2:g.5460C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679684.1:c.-76C>T | ENSP00000505981.1:n.-76C>T | |
| ENST00000679738.1:c.-76C>T | ENSP00000505063.1:n.-76C>T | |
| ENST00000679802.1:c.-76C>T | ENSP00000505184.1:n.-76C>T | |
| ENST00000679854.1:n.436C>T | ||
| ENST00000679957.1:c.-76C>T | ENSP00000506646.1:n.-76C>T | |
| ENST00000680041.1:c.-201C>T | ENSP00000504866.1:n.-201C>T | |
| ENST00000680783.1:c.-76C>T | ENSP00000506329.1:n.-76C>T | |
| ENST00000681269.1:c.-30-3278C>T | ENSP00000505985.1:n.-30-3278C>T | |
| ENST00000681347.1:n.436C>T | ||
| ENST00000681772.1:c.-76C>T | ENSP00000505829.1:n.-76C>T | |
| ENST00000366667.4:c.-49C>T | ENSP00000355627.4:n.-49C>T | |
| NM_000029.3:c.-49C>T | NP_000020.1:n.-49C>T | |
| NM_001382817.3:c.-30-3278C>T | NP_001369746.2:n.-30-3278C>T |