Linked Data
dbSNP Id:
rs16917546
gnomAD v2:
10-64397538-T-C
gnomAD v3:
10-62637778-T-C
gnomAD v4:
10-62637778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62637778T>C , CM000672.2:g.62637778T>C | GRCh38 |
| NC_000010.10:g.64397538T>C , CM000672.1:g.64397538T>C | GRCh37 |
| NC_000010.9:g.64067544T>C | NCBI36 |
| NG_021209.1:g.268623T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647733.1:c.1129+14528T>C | ENSP00000502188.1:n.1129+14528T>C | |
| ENST00000395251.5:c.-184-5964T>C | ENSP00000378672.1:n.-184-5964T>C | |
| ENST00000410046.7:c.1129+14528T>C | ENSP00000387091.3:n.1129+14528T>C | |
| NM_199451.2:c.1129+14528T>C | NP_955523.1:n.1129+14528T>C | |
| NM_199452.3:c.-184-5964T>C | NP_955524.3:n.-184-5964T>C | |
| XM_011539530.1:c.-311+4126T>C | XP_011537832.1:n.-311+4126T>C | |
| XM_011539531.1:c.-311+4126T>C | XP_011537833.1:n.-311+4126T>C | |
| XM_011539532.1:c.-185+4126T>C | XP_011537834.1:n.-185+4126T>C | |
| XM_011539533.1:c.-311+4126T>C | XP_011537835.1:n.-311+4126T>C | |
| XR_946002.1:n.82-12655A>G | ||
| XR_946002.2:n.82-12655A>G | ||
| NM_199451.3:c.1129+14528T>C | NP_955523.1:n.1129+14528T>C |