Linked Data
dbSNP Id:
rs765442328
ExAC:
16:1499373 C / G
gnomAD v2:
16-1499373-C-G
gnomAD v3:
16-1449372-C-G
gnomAD v4:
16-1449372-C-G
MyVariant Identifiers:
chr16:g.1499373C>G (hg19)
chr16:g.1499373_1499374delinsGA (hg19)
chr16:g.1449372C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1449372C>G , CM000678.2:g.1449372C>G | GRCh38 |
| NC_000016.9:g.1499373C>G , CM000678.1:g.1499373C>G | GRCh37 |
| NC_000016.8:g.1439374C>G | NCBI36 |
| NG_007567.1:g.30713G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.1618-45G>C | ENSP00000514703.1:n.1618-45G>C | |
| ENST00000699948.1:c.1624-279G>C | ENSP00000514704.1:n.1624-279G>C | |
| ENST00000382745.9:c.1618-45G>C MANE Select | ENSP00000372193.4:n.1618-45G>C | |
| ENST00000262318.12:c.1546-45G>C | ENSP00000262318.8:n.1546-45G>C | |
| ENST00000382745.8:c.1618-45G>C | ENSP00000372193.4:n.1618-45G>C | |
| ENST00000448525.5:c.1546-45G>C | ENSP00000410907.1:n.1546-45G>C | |
| ENST00000563642.6:n.1642G>C | ||
| ENST00000565092.6:n.426G>C | ||
| NM_001114331.2:c.1546-45G>C | NP_001107803.1:n.1546-45G>C | |
| NM_001287.5:c.1618-45G>C | NP_001278.1:n.1618-45G>C | |
| XM_011522354.1:c.1444-45G>C | XP_011520656.1:n.1444-45G>C | |
| NM_001287.6:c.1618-45G>C MANE Select | NP_001278.1:n.1618-45G>C | |
| NM_001114331.3:c.1546-45G>C | NP_001107803.1:n.1546-45G>C |