Linked Data
ClinVar Variation Id:
377252
ClinVar RCV Id:
RCV000429322
dbSNP Id:
rs1057520174
gnomAD v4:
11-110263959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110263959C>T , CM000673.2:g.110263959C>T | GRCh38 |
| NC_000011.9:g.110134684C>T , CM000673.1:g.110134684C>T | GRCh37 |
| NC_000011.8:g.109639894C>T | NCBI36 |
| NG_023044.1:g.37754G>A | |
| NG_023044.2:g.37754G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642511.1:c.321+1G>A | ||
| ENST00000645495.2:c.467+1G>A MANE Select | ENSP00000496503.2:n.467+1G>A | |
| ENST00000645527.1:c.467+1G>A | ENSP00000496121.1:n.467+1G>A | |
| ENST00000646663.1:c.467+1G>A | ENSP00000494693.1:n.467+1G>A | |
| ENST00000647231.1:c.467+1G>A | ENSP00000496414.1:n.467+1G>A | |
| ENST00000343115.8:c.467+1G>A | ENSP00000342830.4:n.467+1G>A | |
| ENST00000405097.5:c.467+1G>A | ENSP00000384136.1:n.467+1G>A | |
| ENST00000528498.5:c.467+1G>A | ENSP00000432112.1:n.467+1G>A | |
| ENST00000528900.5:c.-83+15722G>A | ENSP00000433580.1:n.-83+15722G>A | |
| ENST00000530131.5:c.97-5770G>A | ENSP00000432829.1:n.97-5770G>A | |
| ENST00000530301.5:c.371+1G>A | ENSP00000436277.1:n.371+1G>A | |
| ENST00000530749.5:c.467+1G>A | ENSP00000437301.1:n.467+1G>A | |
| ENST00000532118.5:c.434+1G>A | ENSP00000437140.1:n.434+1G>A | |
| ENST00000534683.1:c.-77+1G>A | ENSP00000431560.1:n.-77+1G>A | |
| ENST00000544551.5:c.60-5770G>A | ENSP00000445826.1:n.60-5770G>A | |
| NM_001260492.1:c.467+1G>A | NP_001247421.1:n.467+1G>A | |
| NM_001260493.1:c.467+1G>A | NP_001247422.1:n.467+1G>A | |
| NM_001260494.1:c.60-5770G>A | NP_001247423.1:n.60-5770G>A | |
| NM_001260495.1:c.-83+15722G>A | NP_001247424.1:n.-83+15722G>A | |
| NM_001260496.1:c.371+1G>A | NP_001247425.1:n.371+1G>A | |
| NM_002906.3:c.467+1G>A | NP_002897.1:n.467+1G>A | |
| NM_001260492.2:c.467+1G>A | NP_001247421.1:n.467+1G>A | |
| NM_002906.4:c.467+1G>A MANE Select | NP_002897.1:n.467+1G>A | |
| NM_001260493.2:c.467+1G>A | NP_001247422.1:n.467+1G>A | |
| NM_001260494.2:c.60-5770G>A | NP_001247423.1:n.60-5770G>A | |
| NM_001260495.2:c.-83+15722G>A | NP_001247424.1:n.-83+15722G>A | |
| NM_001260496.2:c.371+1G>A | NP_001247425.1:n.371+1G>A |