Linked Data
dbSNP Id:
rs1320050934
gnomAD v2:
6-43488216-G-T
gnomAD v3:
6-43520478-G-T
gnomAD v4:
6-43520478-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520478G>T , CM000668.2:g.43520478G>T | GRCh38 |
| NC_000006.11:g.43488216G>T , CM000668.1:g.43488216G>T | GRCh37 |
| NC_000006.10:g.43596194G>T | NCBI36 |
| NG_028283.1:g.8440G>T | |
| NG_028283.3:g.15777G>T | |
| NG_051658.1:g.60598C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.655+51G>T | ENSP00000496683.1:n.655+51G>T | |
| ENST00000642195.1:c.655+51G>T MANE Select | ENSP00000496044.1:n.655+51G>T | |
| ENST00000643341.1:c.655+51G>T | ENSP00000496018.1:n.655+51G>T | |
| ENST00000643799.1:c.655+51G>T | ENSP00000494529.1:n.655+51G>T | |
| ENST00000645141.1:c.*266+51G>T | ENSP00000496755.1:n.*266+51G>T | |
| ENST00000646188.1:c.490+51G>T | ENSP00000496001.1:n.490+51G>T | |
| ENST00000646433.1:c.655+51G>T | ENSP00000494368.1:n.655+51G>T | |
| ENST00000646700.1:c.655+51G>T | ENSP00000495521.1:n.655+51G>T | |
| ENST00000304004.7:c.655+51G>T | ENSP00000307212.3:n.655+51G>T | |
| ENST00000372344.6:c.655+51G>T | ENSP00000361419.2:n.655+51G>T | |
| ENST00000372389.7:c.655+51G>T | ENSP00000361465.3:n.655+51G>T | |
| ENST00000455605.2:n.999G>T | ||
| ENST00000481352.6:n.1027+51G>T | ||
| ENST00000488601.6:n.894+51G>T | ||
| NM_203290.2:c.655+51G>T | NP_976035.1:n.655+51G>T | |
| XM_005249491.1:c.655+51G>T | XP_005249548.1:n.655+51G>T | |
| XM_011515000.1:c.655+51G>T | XP_011513302.1:n.655+51G>T | |
| NM_001318876.1:c.655+51G>T | NP_001305805.1:n.655+51G>T | |
| NM_001363658.1:c.655+51G>T | NP_001350587.1:n.655+51G>T | |
| NM_203290.3:c.655+51G>T | NP_976035.1:n.655+51G>T | |
| NM_203290.4:c.655+51G>T MANE Select | NP_976035.1:n.655+51G>T | |
| NM_001363658.2:c.655+51G>T | NP_001350587.1:n.655+51G>T | |
| NM_001318876.2:c.655+51G>T | NP_001305805.1:n.655+51G>T |