Linked Data
dbSNP Id:
rs10517025
gnomAD v2:
4-42453253-C-T
gnomAD v3:
4-42451236-C-T
gnomAD v4:
4-42451236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42451236C>T , CM000666.2:g.42451236C>T | GRCh38 |
| NC_000004.11:g.42453253C>T , CM000666.1:g.42453253C>T | GRCh37 |
| NC_000004.10:g.42148010C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700470.1:c.2851+745G>A | ENSP00000515003.1:n.2851+745G>A | |
| ENST00000264449.14:c.2851+745G>A | ENSP00000264449.10:n.2851+745G>A | |
| ENST00000381668.9:c.2896+745G>A MANE Select | ENSP00000371084.5:n.2896+745G>A | |
| ENST00000506602.5:c.604+745G>A | ||
| ENST00000514372.5:c.776+745G>A | ENSP00000426495.1:n.776+745G>A | |
| NM_001105529.1:c.2851+745G>A | NP_001098999.1:n.2851+745G>A | |
| NM_006095.2:c.2896+745G>A MANE Select | NP_006086.1:n.2896+745G>A | |
| XM_005248043.2:c.2896+745G>A | XP_005248100.1:n.2896+745G>A | |
| XM_011513615.1:c.2917+745G>A | XP_011511917.1:n.2917+745G>A | |
| XM_011513616.1:c.2917+745G>A | XP_011511918.1:n.2917+745G>A | |
| XM_011513618.1:c.2872+745G>A | XP_011511920.1:n.2872+745G>A | |
| XM_011513619.1:c.2425+745G>A | XP_011511921.1:n.2425+745G>A | |
| XR_925117.1:n.3158+745G>A | ||
| XR_925118.1:n.2950+745G>A | ||
| XM_005248043.3:c.2896+745G>A | XP_005248100.1:n.2896+745G>A | |
| XM_011513615.2:c.2917+745G>A | XP_011511917.1:n.2917+745G>A | |
| XM_011513616.3:c.2917+745G>A | XP_011511918.1:n.2917+745G>A | |
| XM_011513618.2:c.2872+745G>A | XP_011511920.1:n.2872+745G>A | |
| XM_017007645.2:c.2851+745G>A | XP_016863134.1:n.2851+745G>A | |
| XM_017007646.1:c.2425+745G>A | XP_016863135.1:n.2425+745G>A | |
| XM_017007647.1:c.2359+745G>A | XP_016863136.1:n.2359+745G>A | |
| XR_001741094.2:n.2969+745G>A | ||
| XR_925117.3:n.3163+745G>A | ||
| XR_925118.2:n.2955+745G>A | ||
| NM_001400024.1:c.2896+745G>A | NP_001386953.1:n.2896+745G>A | |
| NM_001400025.1:c.2872+745G>A | NP_001386954.1:n.2872+745G>A | |
| NM_001400026.1:c.2851+745G>A | NP_001386955.1:n.2851+745G>A | |
| NM_001400027.1:c.2359+745G>A | NP_001386956.1:n.2359+745G>A |