Linked Data
ClinVar Variation Id:
501634
dbSNP Id:
rs1253447533
gnomAD v2:
14-77744728-G-A
gnomAD v4:
14-77278385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278385G>A , CM000676.2:g.77278385G>A | GRCh38 |
| NC_000014.8:g.77744728G>A , CM000676.1:g.77744728G>A | GRCh37 |
| NC_000014.7:g.76814481G>A | NCBI36 |
| NG_008897.1:g.47498C>T , LRG_844:g.47498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1072+9C>T | ||
| ENST00000556394.2:c.1688+9C>T | ENSP00000451967.2:n.1688+9C>T | |
| ENST00000682247.1:c.2136+9C>T | ENSP00000507213.1:n.2136+9C>T | |
| ENST00000682395.1:n.2611+9C>T | ||
| ENST00000682459.1:n.1850+9C>T | ||
| ENST00000682467.1:c.2006+9C>T | ENSP00000508062.1:n.2006+9C>T | |
| ENST00000682795.1:c.2294+9C>T | ENSP00000507574.1:n.2294+9C>T | |
| ENST00000682895.1:n.1863+9C>T | ||
| ENST00000682955.1:n.1721+9C>T | ||
| ENST00000683188.1:c.2408+9C>T | ||
| ENST00000683380.1:n.1811+9C>T | ||
| ENST00000684259.1:n.3914+9C>T | ||
| ENST00000684538.1:n.1526+9C>T | ||
| ENST00000684549.1:n.1698+9C>T | ||
| ENST00000261534.9:c.2147+9C>T MANE Select | ENSP00000261534.4:n.2147+9C>T | |
| ENST00000261534.8:c.2147+9C>T | ENSP00000261534.4:n.2147+9C>T | |
| ENST00000452340.7:n.3123+9C>T | ||
| ENST00000554767.5:n.2933+9C>T | ||
| ENST00000555710.1:c.508+9C>T | ENSP00000451730.1:n.508+9C>T | |
| ENST00000556394.1:c.202+9C>T | ||
| ENST00000556446.1:n.457C>T | ||
| ENST00000602717.5:c.362+9C>T | ENSP00000487704.1:n.362+9C>T | |
| NM_013382.5:c.2147+9C>T , LRG_844t1:c.2147+9C>T | NP_037514.2:n.2147+9C>T | |
| XM_011536675.1:c.2336+9C>T | XP_011534977.1:n.2336+9C>T | |
| XM_011536676.1:c.2003+9C>T | XP_011534978.1:n.2003+9C>T | |
| XM_011536677.1:c.1877+9C>T | XP_011534979.1:n.1877+9C>T | |
| XM_011536679.1:c.1430+9C>T | XP_011534981.1:n.1430+9C>T | |
| XR_943416.1:n.2400+9C>T | ||
| XM_011536675.2:c.2336+9C>T | XP_011534977.1:n.2336+9C>T | |
| XM_011536676.2:c.2003+9C>T | XP_011534978.1:n.2003+9C>T | |
| XM_011536677.3:c.1877+9C>T | XP_011534979.1:n.1877+9C>T | |
| XR_001750279.1:n.2433+9C>T | ||
| XR_001750282.1:n.3086+9C>T | ||
| XR_943416.3:n.2398+9C>T | ||
| NM_013382.6:c.2147+9C>T | NP_037514.2:n.2147+9C>T | |
| NM_013382.7:c.2147+9C>T MANE Select | NP_037514.2:n.2147+9C>T |