Linked Data
ClinVar Variation Id:
194389
dbSNP Id:
rs771427957
ExAC:
11:64519395 C / T
gnomAD v2:
11-64519395-C-T
gnomAD v3:
11-64751923-C-T
gnomAD v4:
11-64751923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751923C>T , CM000673.2:g.64751923C>T | GRCh38 |
| NC_000011.9:g.64519395C>T , CM000673.1:g.64519395C>T | GRCh37 |
| NC_000011.8:g.64275971C>T | NCBI36 |
| NG_013018.1:g.13793G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.1768+1G>A MANE Select | ENSP00000164139.3:n.1768+1G>A | |
| ENST00000164139.3:c.1768+1G>A | ENSP00000164139.3:n.1768+1G>A | |
| ENST00000377432.7:c.1504+1G>A | ENSP00000366650.3:n.1504+1G>A | |
| ENST00000462303.1:n.92+1G>A | ||
| NM_001164716.1:c.1504+1G>A | NP_001158188.1:n.1504+1G>A | |
| NM_005609.2:c.1768+1G>A | NP_005600.1:n.1768+1G>A | |
| NM_005609.3:c.1768+1G>A | NP_005600.1:n.1768+1G>A | |
| NM_005609.4:c.1768+1G>A MANE Select | NP_005600.1:n.1768+1G>A |