Linked Data
dbSNP Id:
rs758691350
ExAC:
11:57373691 G / T
gnomAD v2:
11-57373691-G-T
gnomAD v4:
11-57606218-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57606218G>T , CM000673.2:g.57606218G>T | GRCh38 |
| NC_000011.9:g.57373691G>T , CM000673.1:g.57373691G>T | GRCh37 |
| NC_000011.8:g.57130267G>T | NCBI36 |
| NG_009625.1:g.13665G>T , LRG_105:g.13665G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.889+5G>T MANE Select | ENSP00000278407.4:n.889+5G>T | |
| ENST00000528996.2:c.59-5508G>T | ENSP00000431226.2:n.59-5508G>T | |
| ENST00000531605.2:c.*665+5G>T | ENSP00000503752.1:n.*665+5G>T | |
| ENST00000619430.2:c.686-190G>T | ENSP00000478572.2:n.686-190G>T | |
| ENST00000676670.1:c.889+5G>T | ENSP00000504807.1:n.889+5G>T | |
| ENST00000676741.1:n.1971+5G>T | ||
| ENST00000677624.1:c.*309+5G>T | ENSP00000503979.1:n.*309+5G>T | |
| ENST00000677625.1:c.889+5G>T | ENSP00000502857.1:n.889+5G>T | |
| ENST00000677856.1:n.953G>T | ||
| ENST00000677915.1:c.685+4049G>T | ENSP00000503118.1:n.685+4049G>T | |
| ENST00000678533.1:c.*443+5G>T | ENSP00000503873.1:n.*443+5G>T | |
| ENST00000678592.1:c.889+5G>T | ENSP00000504424.1:n.889+5G>T | |
| ENST00000278407.8:c.889+5G>T | ENSP00000278407.4:n.889+5G>T | |
| ENST00000340687.10:c.889+5G>T | ENSP00000341861.6:n.889+5G>T | |
| ENST00000378323.8:c.904+5G>T | ENSP00000367574.4:n.904+5G>T | |
| ENST00000378324.6:c.733+5G>T | ENSP00000367575.2:n.733+5G>T | |
| ENST00000403558.1:c.991+5G>T | ENSP00000384420.1:n.991+5G>T | |
| ENST00000531133.5:c.390+5G>T | ENSP00000435431.1:n.390+5G>T | |
| ENST00000531797.5:c.*54+4049G>T | ENSP00000432554.1:n.*54+4049G>T | |
| ENST00000619430.1:c.349-5687G>T | ENSP00000478572.1:n.349-5687G>T | |
| NM_000062.2:c.889+5G>T , LRG_105t1:c.889+5G>T | NP_000053.2:n.889+5G>T | |
| NM_001032295.1:c.889+5G>T | NP_001027466.1:n.889+5G>T | |
| NM_000062.3:c.889+5G>T MANE Select | NP_000053.2:n.889+5G>T | |
| NM_001032295.2:c.889+5G>T | NP_001027466.1:n.889+5G>T |