Linked Data
ClinVar Variation Id:
319758
dbSNP Id:
rs17859933
ExAC:
16:55525879 G / A
gnomAD v2:
16-55525879-G-A
gnomAD v3:
16-55491967-G-A
gnomAD v4:
16-55491967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55491967G>A , CM000678.2:g.55491967G>A | GRCh38 |
| NC_000016.9:g.55525879G>A , CM000678.1:g.55525879G>A | GRCh37 |
| NC_000016.8:g.54083380G>A | NCBI36 |
| NG_008989.1:g.17799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.1336+11G>A MANE Select | ENSP00000219070.4:n.1336+11G>A | |
| ENST00000219070.8:c.1336+11G>A | ENSP00000219070.4:n.1336+11G>A | |
| ENST00000437642.6:c.1186+11G>A | ENSP00000394237.2:n.1186+11G>A | |
| ENST00000543485.5:c.1108+11G>A | ENSP00000444143.1:n.1108+11G>A | |
| ENST00000570283.1:c.211+11G>A | ENSP00000456518.1:n.211+11G>A | |
| ENST00000570308.5:c.1108+11G>A | ENSP00000461421.1:n.1108+11G>A | |
| NM_001127891.2:c.1186+11G>A | NP_001121363.1:n.1186+11G>A | |
| NM_001302508.1:c.1108+11G>A | NP_001289437.1:n.1108+11G>A | |
| NM_001302509.1:c.1108+11G>A | NP_001289438.1:n.1108+11G>A | |
| NM_001302510.1:c.1108+11G>A | NP_001289439.1:n.1108+11G>A | |
| NM_004530.5:c.1336+11G>A | NP_004521.1:n.1336+11G>A | |
| NM_004530.6:c.1336+11G>A MANE Select | NP_004521.1:n.1336+11G>A | |
| NM_001127891.3:c.1186+11G>A | NP_001121363.1:n.1186+11G>A | |
| NM_001302509.2:c.1108+11G>A | NP_001289438.1:n.1108+11G>A | |
| NM_001302510.2:c.1108+11G>A | NP_001289439.1:n.1108+11G>A |