Linked Data
dbSNP Id:
rs10995251
gnomAD v2:
10-64398466-C-T
gnomAD v3:
10-62638706-C-T
gnomAD v4:
10-62638706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62638706C>T , CM000672.2:g.62638706C>T | GRCh38 |
| NC_000010.10:g.64398466C>T , CM000672.1:g.64398466C>T | GRCh37 |
| NC_000010.9:g.64068472C>T | NCBI36 |
| NG_021209.1:g.269551C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647733.1:c.1129+15456C>T | ENSP00000502188.1:n.1129+15456C>T | |
| ENST00000395251.5:c.-184-5036C>T | ENSP00000378672.1:n.-184-5036C>T | |
| ENST00000410046.7:c.1129+15456C>T | ENSP00000387091.3:n.1129+15456C>T | |
| NM_199451.2:c.1129+15456C>T | NP_955523.1:n.1129+15456C>T | |
| NM_199452.3:c.-184-5036C>T | NP_955524.3:n.-184-5036C>T | |
| XM_011539530.1:c.-310-5036C>T | XP_011537832.1:n.-310-5036C>T | |
| XM_011539531.1:c.-310-5036C>T | XP_011537833.1:n.-310-5036C>T | |
| XM_011539532.1:c.-184-5036C>T | XP_011537834.1:n.-184-5036C>T | |
| XM_011539533.1:c.-310-5036C>T | XP_011537835.1:n.-310-5036C>T | |
| XR_946002.1:n.82-13583G>A | ||
| XR_946002.2:n.82-13583G>A | ||
| NM_199451.3:c.1129+15456C>T | NP_955523.1:n.1129+15456C>T |