Linked Data
dbSNP Id:
rs778128825
ExAC:
1:45480966 G / C
gnomAD v2:
1-45480966-G-C
gnomAD v3:
1-45015294-G-C
gnomAD v4:
1-45015294-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45015294G>C , CM000663.2:g.45015294G>C | GRCh38 |
| NC_000001.10:g.45480966G>C , CM000663.1:g.45480966G>C | GRCh37 |
| NC_000001.9:g.45253553G>C | NCBI36 |
| NG_007122.2:g.8137G>C | |
| NG_033058.1:g.1062C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.943-43G>C MANE Select | ENSP00000246337.4:n.943-43G>C | |
| ENST00000491773.6:c.700-43G>C | ENSP00000498551.1:n.700-43G>C | |
| ENST00000636293.1:c.805-43G>C | ENSP00000490710.1:n.805-43G>C | |
| ENST00000636836.1:c.876-43G>C | ENSP00000490594.1:n.876-43G>C | |
| ENST00000651476.1:c.838-43G>C | ENSP00000498668.1:n.838-43G>C | |
| ENST00000652165.1:c.700-43G>C | ENSP00000498295.1:n.700-43G>C | |
| ENST00000652287.1:c.880-43G>C | ENSP00000498413.1:n.880-43G>C | |
| ENST00000652514.1:c.904-43G>C | ENSP00000498635.1:n.904-43G>C | |
| ENST00000246337.8:c.943-43G>C | ENSP00000246337.4:n.943-43G>C | |
| ENST00000465678.1:n.645G>C | ||
| ENST00000466193.1:n.469-43G>C | ||
| ENST00000472254.1:n.696-43G>C | ||
| ENST00000494399.5:n.1610-43G>C | ||
| NM_000374.4:c.943-43G>C | NP_000365.3:n.943-43G>C | |
| NR_036510.1:n.1126-43G>C | ||
| XM_005271169.1:c.727-43G>C | XP_005271226.1:n.727-43G>C | |
| XM_005271170.1:c.727-43G>C | XP_005271227.1:n.727-43G>C | |
| XM_011542080.1:c.880-43G>C | XP_011540382.1:n.880-43G>C | |
| XM_011542081.1:c.775-43G>C | XP_011540383.1:n.775-43G>C | |
| NM_000374.5:c.943-43G>C MANE Select | NP_000365.3:n.943-43G>C | |
| NR_158184.1:n.1024-43G>C | ||
| NR_158185.1:n.974-43G>C | ||
| NR_036510.2:n.1005-43G>C |