Linked Data
dbSNP Id:
rs1046915148
gnomAD v2:
1-201287082-G-C
gnomAD v3:
1-201317954-G-C
gnomAD v4:
1-201317954-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317954G>C , CM000663.2:g.201317954G>C | GRCh38 |
| NC_000001.10:g.201287082G>C , CM000663.1:g.201287082G>C | GRCh37 |
| NC_000001.9:g.199553705G>C | NCBI36 |
| NG_023337.1:g.39503G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.1054+175G>C MANE Select | ENSP00000356293.4:n.1054+175G>C | |
| ENST00000263946.7:c.1054+175G>C | ENSP00000263946.3:n.1054+175G>C | |
| ENST00000352845.3:c.1054+175G>C | ENSP00000295597.3:n.1054+175G>C | |
| ENST00000367324.7:c.1054+175G>C | ENSP00000356293.3:n.1054+175G>C | |
| ENST00000475988.1:n.396+175G>C | ||
| ENST00000622031.4:c.1051+175G>C | ENSP00000482213.1:n.1051+175G>C | |
| NM_000299.3:c.1054+175G>C | NP_000290.2:n.1054+175G>C | |
| NM_001005337.2:c.1054+175G>C | NP_001005337.1:n.1054+175G>C | |
| NM_001005337.3:c.1054+175G>C MANE Select | NP_001005337.1:n.1054+175G>C | |
| NM_000299.4:c.1054+175G>C | NP_000290.2:n.1054+175G>C |