Linked Data
ClinVar Variation Id:
785469
ClinVar RCV Id:
RCV000967337
dbSNP Id:
rs34158504
ExAC:
14:102550121 T / C
gnomAD v2:
14-102550121-T-C
gnomAD v3:
14-102083784-T-C
gnomAD v4:
14-102083784-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102083784T>C , CM000676.2:g.102083784T>C | GRCh38 |
| NC_000014.8:g.102550121T>C , CM000676.1:g.102550121T>C | GRCh37 |
| NC_000014.7:g.101619874T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216281.13:c.1338+9A>G MANE Select | ENSP00000216281.8:n.1338+9A>G | |
| ENST00000216281.12:c.1338+9A>G | ENSP00000216281.7:n.1338+9A>G | |
| ENST00000334701.11:c.1704+9A>G | ENSP00000335153.7:n.1704+9A>G | |
| ENST00000554401.1:c.924+9A>G | ||
| ENST00000557089.1:n.442+9A>G | ||
| NM_001017963.2:c.1704+9A>G | NP_001017963.2:n.1704+9A>G | |
| NM_005348.3:c.1338+9A>G | NP_005339.3:n.1338+9A>G | |
| XM_011536718.1:c.1701+9A>G | XP_011535020.1:n.1701+9A>G | |
| XM_011536718.2:c.1701+9A>G | XP_011535020.1:n.1701+9A>G | |
| NM_001017963.3:c.1704+9A>G | NP_001017963.2:n.1704+9A>G | |
| NM_005348.4:c.1338+9A>G MANE Select | NP_005339.3:n.1338+9A>G |