Linked Data
dbSNP Id:
rs1341842403
gnomAD v2:
16-1497339-A-C
gnomAD v3:
16-1447338-A-C
gnomAD v4:
16-1447338-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447338A>C , CM000678.2:g.1447338A>C | GRCh38 |
| NC_000016.9:g.1497339A>C , CM000678.1:g.1497339A>C | GRCh37 |
| NC_000016.8:g.1437340A>C | NCBI36 |
| NG_007567.1:g.32747T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.2250+54T>G | ENSP00000514703.1:n.2250+54T>G | |
| ENST00000699948.1:c.*563+54T>G | ENSP00000514704.1:n.*563+54T>G | |
| ENST00000382745.9:c.2250+54T>G MANE Select | ENSP00000372193.4:n.2250+54T>G | |
| ENST00000262318.12:c.2182+50T>G | ENSP00000262318.8:n.2182+50T>G | |
| ENST00000382745.8:c.2250+54T>G | ENSP00000372193.4:n.2250+54T>G | |
| ENST00000448525.5:c.2178+54T>G | ENSP00000410907.1:n.2178+54T>G | |
| ENST00000563642.6:n.2319+54T>G | ||
| ENST00000565092.6:n.1285+54T>G | ||
| ENST00000567836.2:n.491+54T>G | ||
| NM_001114331.2:c.2178+54T>G | NP_001107803.1:n.2178+54T>G | |
| NM_001287.5:c.2250+54T>G | NP_001278.1:n.2250+54T>G | |
| XM_011522354.1:c.2076+54T>G | XP_011520656.1:n.2076+54T>G | |
| NM_001287.6:c.2250+54T>G MANE Select | NP_001278.1:n.2250+54T>G | |
| NM_001114331.3:c.2178+54T>G | NP_001107803.1:n.2178+54T>G |