Linked Data
ClinVar Variation Id:
2803710
ClinVar RCV Id:
RCV003681648
dbSNP Id:
rs535010355
ExAC:
14:75359701 A / G
gnomAD v2:
14-75359701-A-G
gnomAD v3:
14-74892998-A-G
gnomAD v4:
14-74892998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74892998A>G , CM000676.2:g.74892998A>G | GRCh38 |
| NC_000014.8:g.75359701A>G , CM000676.1:g.75359701A>G | GRCh37 |
| NC_000014.7:g.74429454A>G | NCBI36 |
| NG_030313.1:g.16108A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334220.9:c.595+12A>G MANE Select | ENSP00000335304.4:n.595+12A>G | |
| ENST00000238671.11:c.*333+12A>G | ENSP00000238671.7:n.*333+12A>G | |
| ENST00000334220.8:c.595+12A>G | ENSP00000335304.4:n.595+12A>G | |
| ENST00000554612.5:c.*338+12A>G | ENSP00000451670.1:n.*338+12A>G | |
| ENST00000554806.5:c.544+12A>G | ENSP00000451957.1:n.544+12A>G | |
| ENST00000555089.5:c.*224+12A>G | ENSP00000452422.1:n.*224+12A>G | |
| ENST00000555190.5:n.541+12A>G | ||
| ENST00000555988.1:c.543+12A>G | ||
| NM_001933.4:c.595+12A>G | NP_001924.2:n.595+12A>G | |
| NR_033814.1:n.600+12A>G | ||
| NR_045209.1:n.609+12A>G | ||
| XR_001750184.2:n.636+12A>G | ||
| NM_001933.5:c.595+12A>G MANE Select | NP_001924.2:n.595+12A>G | |
| NR_033814.2:n.575+12A>G | ||
| NR_045209.2:n.584+12A>G |