Linked Data
ClinVar Variation Id:
515857
dbSNP Id:
rs769039137
ExAC:
14:77751807 A / G
gnomAD v2:
14-77751807-A-G
gnomAD v3:
14-77285464-A-G
gnomAD v4:
14-77285464-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77285464A>G , CM000676.2:g.77285464A>G | GRCh38 |
| NC_000014.8:g.77751807A>G , CM000676.1:g.77751807A>G | GRCh37 |
| NC_000014.7:g.76821560A>G | NCBI36 |
| NG_008897.1:g.40419T>C , LRG_844:g.40419T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555134.2:n.123+17T>C | ||
| ENST00000556394.2:c.1025+17T>C | ENSP00000451967.2:n.1025+17T>C | |
| ENST00000682247.1:c.1484+17T>C | ENSP00000507213.1:n.1484+17T>C | |
| ENST00000682382.1:c.1056+17T>C | ||
| ENST00000682395.1:n.1662+17T>C | ||
| ENST00000682459.1:n.1187+17T>C | ||
| ENST00000682467.1:c.1484+17T>C | ENSP00000508062.1:n.1484+17T>C | |
| ENST00000682560.1:c.152+17T>C | ENSP00000507033.1:n.152+17T>C | |
| ENST00000682795.1:c.1484+17T>C | ENSP00000507574.1:n.1484+17T>C | |
| ENST00000682895.1:n.1200+17T>C | ||
| ENST00000682955.1:n.772+17T>C | ||
| ENST00000683188.1:c.1459+17T>C | ||
| ENST00000683380.1:n.1148+17T>C | ||
| ENST00000683828.1:c.1193+17T>C | ||
| ENST00000684259.1:n.1335+17T>C | ||
| ENST00000684444.1:c.235+17T>C | ||
| ENST00000684549.1:n.1035+17T>C | ||
| ENST00000261534.9:c.1484+17T>C MANE Select | ENSP00000261534.4:n.1484+17T>C | |
| ENST00000261534.8:c.1484+17T>C | ENSP00000261534.4:n.1484+17T>C | |
| ENST00000452340.7:n.1507+17T>C | ||
| ENST00000553880.5:n.372T>C | ||
| ENST00000554767.5:n.2270+17T>C | ||
| ENST00000554884.5:n.476+17T>C | ||
| ENST00000555134.1:n.123+17T>C | ||
| NM_013382.5:c.1484+17T>C , LRG_844t1:c.1484+17T>C | NP_037514.2:n.1484+17T>C | |
| XM_011536675.1:c.1484+17T>C | XP_011534977.1:n.1484+17T>C | |
| XM_011536676.1:c.1151+17T>C | XP_011534978.1:n.1151+17T>C | |
| XM_011536677.1:c.1025+17T>C | XP_011534979.1:n.1025+17T>C | |
| XM_011536678.1:c.1484+17T>C | XP_011534980.1:n.1484+17T>C | |
| XM_011536679.1:c.578+17T>C | XP_011534981.1:n.578+17T>C | |
| XR_943416.1:n.1687+17T>C | ||
| XM_011536675.2:c.1484+17T>C | XP_011534977.1:n.1484+17T>C | |
| XM_011536676.2:c.1151+17T>C | XP_011534978.1:n.1151+17T>C | |
| XM_011536677.3:c.1025+17T>C | XP_011534979.1:n.1025+17T>C | |
| XR_001750279.1:n.1684+17T>C | ||
| XR_001750282.1:n.2137+17T>C | ||
| XR_943416.3:n.1685+17T>C | ||
| NM_013382.6:c.1484+17T>C | NP_037514.2:n.1484+17T>C | |
| NM_013382.7:c.1484+17T>C MANE Select | NP_037514.2:n.1484+17T>C |