Linked Data
ClinVar Variation Id:
381072
dbSNP Id:
rs779641464
ExAC:
16:2036032 G / T
gnomAD v2:
16-2036032-G-T
gnomAD v3:
16-1986031-G-T
gnomAD v4:
16-1986031-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986031G>T , CM000678.2:g.1986031G>T | GRCh38 |
| NC_000016.9:g.2036032G>T , CM000678.1:g.2036032G>T | GRCh37 |
| NC_000016.8:g.1976033G>T | NCBI36 |
| NG_016288.1:g.6883G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*3G>T | ENSP00000455885.1:n.*3G>T | |
| ENST00000248114.7:c.*3G>T MANE Select | ENSP00000248114.6:n.*3G>T | |
| ENST00000248114.6:c.*3G>T | ENSP00000248114.6:n.*3G>T | |
| ENST00000565658.1:n.778G>T | ||
| ENST00000567719.1:c.*3G>T | ENSP00000455885.1:n.*3G>T | |
| ENST00000569451.1:c.*94G>T | ENSP00000456432.1:n.*94G>T | |
| NM_005262.2:c.*3G>T | NP_005253.3:n.*3G>T | |
| NM_005262.3:c.*3G>T MANE Select | NP_005253.3:n.*3G>T |