Linked Data
ClinVar Variation Id:
313113
ClinVar RCV Id:
RCV000382961
dbSNP Id:
rs201614038
ExAC:
14:35872346 G / A
gnomAD v2:
14-35872346-G-A
gnomAD v3:
14-35403140-G-A
gnomAD v4:
14-35403140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35403140G>A , CM000676.2:g.35403140G>A | GRCh38 |
| NC_000014.8:g.35872346G>A , CM000676.1:g.35872346G>A | GRCh37 |
| NC_000014.7:g.34942097G>A | NCBI36 |
| NG_007571.1:g.6599C>T , LRG_89:g.6599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.475+10C>T | ENSP00000451281.2:n.475+10C>T | |
| ENST00000557459.2:n.655C>T | ||
| ENST00000697954.1:n.369C>T | ||
| ENST00000697955.1:n.515C>T | ||
| ENST00000697956.1:n.436C>T | ||
| ENST00000697957.1:n.662C>T | ||
| ENST00000697958.1:n.984C>T | ||
| ENST00000697959.1:n.662C>T | ||
| ENST00000697960.1:n.971C>T | ||
| ENST00000697961.1:c.547+10C>T | ENSP00000513487.1:n.547+10C>T | |
| ENST00000697962.1:c.277+10C>T | ENSP00000513488.1:n.277+10C>T | |
| ENST00000697966.1:n.565+10C>T | ||
| ENST00000216797.10:c.547+10C>T MANE Select | ENSP00000216797.6:n.547+10C>T | |
| ENST00000216797.9:c.547+10C>T | ENSP00000216797.5:n.547+10C>T | |
| ENST00000554001.5:c.*189+10C>T | ENSP00000450537.1:n.*189+10C>T | |
| ENST00000555371.1:n.89+10C>T | ||
| ENST00000556664.1:n.281+10C>T | ||
| ENST00000557100.5:n.603+10C>T | ||
| ENST00000557140.5:c.547+10C>T | ENSP00000451257.1:n.547+10C>T | |
| ENST00000557389.1:c.277+10C>T | ENSP00000450514.1:n.277+10C>T | |
| ENST00000557459.1:n.655C>T | ||
| NM_020529.2:c.547+10C>T , LRG_89t1:c.547+10C>T | NP_065390.1:n.547+10C>T | |
| NM_020529.3:c.547+10C>T MANE Select | NP_065390.1:n.547+10C>T |