Linked Data
dbSNP Id:
rs661057
gnomAD v2:
11-121328954-T-C
gnomAD v3:
11-121458245-T-C
gnomAD v4:
11-121458245-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121458245T>C , CM000673.2:g.121458245T>C | GRCh38 |
| NC_000011.9:g.121328954T>C , CM000673.1:g.121328954T>C | GRCh37 |
| NC_000011.8:g.120834164T>C | NCBI36 |
| NG_023313.1:g.10994T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.285+5629T>C MANE Select | ENSP00000260197.6:n.285+5629T>C | |
| ENST00000260197.11:c.285+5629T>C | ENSP00000260197.6:n.285+5629T>C | |
| ENST00000532451.1:n.237+5629T>C | ||
| NM_003105.5:c.285+5629T>C | NP_003096.1:n.285+5629T>C | |
| XM_011542963.1:c.285+5629T>C | XP_011541265.1:n.285+5629T>C | |
| XM_011542964.1:c.285+5629T>C | XP_011541266.1:n.285+5629T>C | |
| XM_011542963.3:c.285+5629T>C | XP_011541265.1:n.285+5629T>C | |
| XM_017018169.2:c.-28+5417T>C | XP_016873658.1:n.-28+5417T>C | |
| XM_017018171.1:c.285+5629T>C | XP_016873660.1:n.285+5629T>C | |
| NM_003105.6:c.285+5629T>C MANE Select | NP_003096.2:n.285+5629T>C |