Linked Data
ClinVar Variation Id:
284275
dbSNP Id:
rs886042834
gnomAD v2:
2-44539893-G-T
gnomAD v3:
2-44312754-G-T
gnomAD v4:
2-44312754-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44312754G>T , CM000664.2:g.44312754G>T | GRCh38 |
| NC_000002.11:g.44539893G>T , CM000664.1:g.44539893G>T | GRCh37 |
| NC_000002.10:g.44393397G>T | NCBI36 |
| NG_008233.1:g.42297G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1500+1G>T MANE Select | ENSP00000260649.6:n.1500+1G>T | |
| ENST00000649044.1:c.*1511+1G>T | ENSP00000497083.1:n.*1511+1G>T | |
| ENST00000260649.10:c.1500+1G>T | ENSP00000260649.6:n.1500+1G>T | |
| ENST00000409229.7:c.1500+1G>T | ENSP00000386620.3:n.1500+1G>T | |
| ENST00000409294.5:c.360+1G>T | ENSP00000386852.1:n.360+1G>T | |
| ENST00000409380.5:c.666+1G>T | ENSP00000386709.1:n.666+1G>T | |
| ENST00000409387.5:c.1500+1G>T | ENSP00000387308.1:n.1500+1G>T | |
| ENST00000409740.3:c.393+1G>T | ENSP00000386677.3:n.393+1G>T | |
| ENST00000409741.5:c.1501G>T | ENSP00000386954.1:p.Val501Leu | |
| ENST00000611973.4:c.1500+1G>T | ENSP00000483618.1:n.1500+1G>T | |
| NM_000341.3:c.1500+1G>T | NP_000332.2:n.1500+1G>T | |
| XM_011533047.1:c.1500+1G>T | XP_011531349.1:n.1500+1G>T | |
| XM_011533047.3:c.1500+1G>T | XP_011531349.1:n.1500+1G>T | |
| NM_000341.4:c.1500+1G>T MANE Select | NP_000332.2:n.1500+1G>T |