Linked Data
ClinVar Variation Id:
1604729
ClinVar RCV Id:
RCV002134786
dbSNP Id:
rs2139500656
gnomAD v4:
14-77306325-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306325A>T , CM000676.2:g.77306325A>T | GRCh38 |
| NC_000014.8:g.77772668A>T , CM000676.1:g.77772668A>T | GRCh37 |
| NC_000014.7:g.76842421A>T | NCBI36 |
| NG_008897.1:g.19558T>A , LRG_844:g.19558T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.179T>A | ||
| ENST00000556394.2:c.249-1525T>A | ENSP00000451967.2:n.249-1525T>A | |
| ENST00000556880.6:n.383T>A | ||
| ENST00000682247.1:c.438+12T>A | ENSP00000507213.1:n.438+12T>A | |
| ENST00000682382.1:c.386+12T>A | ||
| ENST00000682395.1:n.167+12T>A | ||
| ENST00000682459.1:n.102+77T>A | ||
| ENST00000682467.1:c.438+12T>A | ENSP00000508062.1:n.438+12T>A | |
| ENST00000682795.1:c.438+12T>A | ENSP00000507574.1:n.438+12T>A | |
| ENST00000682895.1:n.154+12T>A | ||
| ENST00000682955.1:n.102+77T>A | ||
| ENST00000683188.1:c.233+12T>A | ||
| ENST00000683380.1:n.102+77T>A | ||
| ENST00000683828.1:c.307+12T>A | ||
| ENST00000684102.1:n.196T>A | ||
| ENST00000684259.1:n.289+12T>A | ||
| ENST00000684479.1:n.105+12T>A | ||
| ENST00000684549.1:n.179T>A | ||
| ENST00000684600.1:c.252+12T>A | ||
| ENST00000684670.1:n.105+12T>A | ||
| ENST00000261534.9:c.438+12T>A MANE Select | ENSP00000261534.4:n.438+12T>A | |
| ENST00000261534.8:c.438+12T>A | ENSP00000261534.4:n.438+12T>A | |
| ENST00000452340.7:n.461+12T>A | ||
| ENST00000553863.5:n.102+77T>A | ||
| ENST00000554948.1:c.165+12T>A | ENSP00000452060.1:n.165+12T>A | |
| ENST00000555675.5:n.154+12T>A | ||
| ENST00000555788.5:n.284T>A | ||
| ENST00000556326.5:c.*104+12T>A | ENSP00000450630.1:n.*104+12T>A | |
| ENST00000556880.5:n.383T>A | ||
| ENST00000557525.1:n.528+12T>A | ||
| NM_013382.5:c.438+12T>A , LRG_844t1:c.438+12T>A | NP_037514.2:n.438+12T>A | |
| XM_011536675.1:c.438+12T>A | XP_011534977.1:n.438+12T>A | |
| XM_011536676.1:c.105+12T>A | XP_011534978.1:n.105+12T>A | |
| XM_011536677.1:c.438+12T>A | XP_011534979.1:n.438+12T>A | |
| XM_011536678.1:c.438+12T>A | XP_011534980.1:n.438+12T>A | |
| XM_011536679.1:c.-279T>A | XP_011534981.1:n.-279T>A | |
| XM_011536680.1:c.438+12T>A | XP_011534982.1:n.438+12T>A | |
| XR_943416.1:n.641+12T>A | ||
| XM_011536675.2:c.438+12T>A | XP_011534977.1:n.438+12T>A | |
| XM_011536676.2:c.105+12T>A | XP_011534978.1:n.105+12T>A | |
| XM_011536677.3:c.438+12T>A | XP_011534979.1:n.438+12T>A | |
| XR_001750279.1:n.638+12T>A | ||
| XR_001750282.1:n.642+12T>A | ||
| XR_943416.3:n.639+12T>A | ||
| NM_013382.6:c.438+12T>A | NP_037514.2:n.438+12T>A | |
| NM_013382.7:c.438+12T>A MANE Select | NP_037514.2:n.438+12T>A |