Linked Data
ClinVar Variation Id:
513516
dbSNP Id:
rs1275496281
gnomAD v3:
19-13455104-C-T
gnomAD v4:
19-13455104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13455104C>T , CM000681.2:g.13455104C>T | GRCh38 |
| NC_000019.9:g.13565918C>T , CM000681.1:g.13565918C>T | GRCh37 |
| NC_000019.8:g.13426918C>T | NCBI36 |
| NG_011569.1:g.56357G>A , LRG_7:g.56357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.399+3G>A MANE Select | ENSP00000353362.5:n.399+3G>A | |
| ENST00000573710.7:c.399+3G>A | ENSP00000460092.3:n.399+3G>A | |
| ENST00000574974.3:c.*31+3G>A | ENSP00000459963.2:n.*31+3G>A | |
| ENST00000593160.2:n.114+3G>A | ||
| ENST00000635727.1:c.399+3G>A | ENSP00000490001.1:n.399+3G>A | |
| ENST00000635895.1:c.399+3G>A | ENSP00000490323.1:n.399+3G>A | |
| ENST00000636012.1:c.399+3G>A | ENSP00000490223.1:n.399+3G>A | |
| ENST00000636389.1:c.399+3G>A | ENSP00000489992.1:n.399+3G>A | |
| ENST00000636549.1:c.399+3G>A | ENSP00000490578.1:n.399+3G>A | |
| ENST00000636966.1:n.287+3G>A | ||
| ENST00000637276.1:c.399+3G>A | ENSP00000489777.1:n.399+3G>A | |
| ENST00000637432.1:c.399+3G>A | ENSP00000490617.1:n.399+3G>A | |
| ENST00000637616.1:n.407+3G>A | ||
| ENST00000637736.1:c.259-2089G>A | ENSP00000489861.1:n.259-2089G>A | |
| ENST00000637769.1:c.399+3G>A | ENSP00000489778.1:n.399+3G>A | |
| ENST00000637927.1:c.399+3G>A | ENSP00000489715.1:n.399+3G>A | |
| ENST00000637966.1:n.252+3G>A | ||
| ENST00000637981.1:n.217+3G>A | ||
| ENST00000638009.2:c.399+3G>A | ENSP00000489913.1:n.399+3G>A | |
| ENST00000638029.1:c.399+3G>A | ENSP00000489829.1:n.399+3G>A | |
| ENST00000664864.1:c.594+3G>A | ENSP00000499449.1:n.594+3G>A | |
| ENST00000360228.9:c.399+3G>A | ENSP00000353362.5:n.399+3G>A | |
| ENST00000573710.6:c.399+3G>A | ENSP00000460092.2:n.399+3G>A | |
| ENST00000574974.1:c.150+3G>A | ENSP00000459963.1:n.150+3G>A | |
| ENST00000614285.4:c.399+3G>A | ENSP00000479983.1:n.399+3G>A | |
| NM_000068.3:c.399+3G>A | NP_000059.3:n.399+3G>A | |
| NM_001127221.1:c.399+3G>A , LRG_7t1:c.399+3G>A | NP_001120693.1:n.399+3G>A | |
| NM_001127222.1:c.399+3G>A | NP_001120694.1:n.399+3G>A | |
| NM_001174080.1:c.399+3G>A | NP_001167551.1:n.399+3G>A | |
| NM_023035.2:c.399+3G>A | NP_075461.2:n.399+3G>A | |
| NM_000068.4:c.399+3G>A | NP_000059.3:n.399+3G>A | |
| NM_001127222.2:c.399+3G>A MANE Select | NP_001120694.1:n.399+3G>A | |
| NM_001174080.2:c.399+3G>A | NP_001167551.1:n.399+3G>A | |
| NM_023035.3:c.399+3G>A | NP_075461.2:n.399+3G>A | |
| NM_001127221.2:c.399+3G>A | NP_001120693.1:n.399+3G>A |