Linked Data
dbSNP Id:
rs3116496
ExAC:
2:204594512 T / C
gnomAD v2:
2-204594512-T-C
gnomAD v3:
2-203729789-T-C
gnomAD v4:
2-203729789-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203729789T>C , CM000664.2:g.203729789T>C | GRCh38 |
| NC_000002.11:g.204594512T>C , CM000664.1:g.204594512T>C | GRCh37 |
| NC_000002.10:g.204302757T>C | NCBI36 |
| NG_029618.1:g.28315T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324106.9:c.534+17T>C MANE Select | ENSP00000324890.7:n.534+17T>C | |
| ENST00000324106.8:c.534+17T>C | ENSP00000324890.7:n.534+17T>C | |
| ENST00000374481.7:c.177+17T>C | ENSP00000363605.4:n.177+17T>C | |
| ENST00000458610.6:c.576+17T>C | ENSP00000393648.2:n.576+17T>C | |
| NM_001243077.1:c.243+17T>C | NP_001230006.1:n.243+17T>C | |
| NM_001243078.1:c.177+17T>C | NP_001230007.1:n.177+17T>C | |
| NM_006139.3:c.534+17T>C | NP_006130.1:n.534+17T>C | |
| XM_006712862.2:c.258+17T>C | XP_006712925.1:n.258+17T>C | |
| XM_011512194.1:c.576+17T>C | XP_011510496.1:n.576+17T>C | |
| XM_011512195.1:c.324+17T>C | XP_011510497.1:n.324+17T>C | |
| XM_011512196.1:c.285+17T>C | XP_011510498.1:n.285+17T>C | |
| XM_011512197.1:c.282+17T>C | XP_011510499.1:n.282+17T>C | |
| XM_011512194.2:c.576+17T>C | XP_011510496.1:n.576+17T>C | |
| XM_011512195.3:c.324+17T>C | XP_011510497.1:n.324+17T>C | |
| XM_011512197.2:c.282+17T>C | XP_011510499.1:n.282+17T>C | |
| NM_006139.4:c.534+17T>C MANE Select | NP_006130.1:n.534+17T>C | |
| NM_001243077.2:c.243+17T>C | NP_001230006.1:n.243+17T>C | |
| NM_001243078.2:c.177+17T>C | NP_001230007.1:n.177+17T>C |