Linked Data
dbSNP Id:
rs1062613
ExAC:
11:113846006 T / C
gnomAD v2:
11-113846006-T-C
gnomAD v3:
11-113975284-T-C
gnomAD v4:
11-113975284-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113975284T>C , CM000673.2:g.113975284T>C | GRCh38 |
| NC_000011.9:g.113846006T>C , CM000673.1:g.113846006T>C | GRCh37 |
| NC_000011.8:g.113351216T>C | NCBI36 |
| NG_013058.1:g.5210T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504030.7:c.-42T>C MANE Select | ENSP00000424189.2:n.-42T>C | |
| ENST00000355556.6:c.-24T>C | ENSP00000347754.2:n.-24T>C | |
| ENST00000375498.6:c.-24T>C | ENSP00000364648.2:n.-24T>C | |
| ENST00000504030.6:c.-42T>C | ENSP00000424189.2:n.-42T>C | |
| ENST00000506841.6:c.-42T>C | ENSP00000424776.2:n.-42T>C | |
| NM_000869.5:c.-24T>C | NP_000860.2:n.-24T>C | |
| NM_213621.3:c.-24T>C | NP_998786.2:n.-24T>C | |
| NR_046363.1:n.210T>C | ||
| NM_000869.6:c.-42T>C MANE Select | NP_000860.3:n.-42T>C | |
| NM_213621.4:c.-42T>C | NP_998786.3:n.-42T>C | |
| NR_046363.2:n.177T>C |