Linked Data
dbSNP Id:
rs1383484
gnomAD v2:
15-84522755-C-T
gnomAD v3:
15-83854003-C-T
gnomAD v4:
15-83854003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.83854003C>T , CM000677.2:g.83854003C>T | GRCh38 |
| NC_000015.9:g.84522755C>T , CM000677.1:g.84522755C>T | GRCh37 |
| NC_000015.8:g.82313759C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286744.10:c.728-4763C>T MANE Select | ENSP00000286744.5:n.728-4763C>T | |
| ENST00000286744.9:c.728-4763C>T | ENSP00000286744.5:n.728-4763C>T | |
| ENST00000561483.5:n.943-4763C>T | ||
| ENST00000567476.1:c.728-4763C>T | ENSP00000456313.1:n.728-4763C>T | |
| ENST00000569510.5:n.943-4763C>T | ||
| NM_001301110.1:c.728-4763C>T | NP_001288039.1:n.728-4763C>T | |
| NM_207517.2:c.728-4763C>T | NP_997400.2:n.728-4763C>T | |
| XM_011521821.1:c.808+4281C>T | XP_011520123.1:n.808+4281C>T | |
| XM_011521822.1:c.808+4281C>T | XP_011520124.1:n.808+4281C>T | |
| XM_011521823.1:c.808+4281C>T | XP_011520125.1:n.808+4281C>T | |
| XM_011521824.1:c.808+4281C>T | XP_011520126.1:n.808+4281C>T | |
| XM_011521825.1:c.808+4281C>T | XP_011520127.1:n.808+4281C>T | |
| XR_931873.1:n.841+4281C>T | ||
| XM_011521822.2:c.808+4281C>T | XP_011520124.1:n.808+4281C>T | |
| XM_011521823.2:c.808+4281C>T | XP_011520125.1:n.808+4281C>T | |
| XM_011521824.2:c.808+4281C>T | XP_011520126.1:n.808+4281C>T | |
| XM_011521825.2:c.808+4281C>T | XP_011520127.1:n.808+4281C>T | |
| XM_017022434.1:c.808+4281C>T | XP_016877923.1:n.808+4281C>T | |
| XM_017022435.1:c.232+4281C>T | XP_016877924.1:n.232+4281C>T | |
| XM_024450000.1:c.808+4281C>T | XP_024305768.1:n.808+4281C>T | |
| XR_931873.2:n.1023+4281C>T | ||
| NM_207517.3:c.728-4763C>T MANE Select | NP_997400.2:n.728-4763C>T | |
| NM_001301110.2:c.728-4763C>T | NP_001288039.1:n.728-4763C>T |