Linked Data
ClinVar Variation Id:
194400
dbSNP Id:
rs794727127
gnomAD v2:
14-77751388-T-G
gnomAD v3:
14-77285045-T-G
gnomAD v4:
14-77285045-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77285045T>G , CM000676.2:g.77285045T>G | GRCh38 |
| NC_000014.8:g.77751388T>G , CM000676.1:g.77751388T>G | GRCh37 |
| NC_000014.7:g.76821141T>G | NCBI36 |
| NG_008897.1:g.40838A>C , LRG_844:g.40838A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.124-4A>C | ||
| ENST00000556394.2:c.1026-4A>C | ENSP00000451967.2:n.1026-4A>C | |
| ENST00000682247.1:c.1485-4A>C | ENSP00000507213.1:n.1485-4A>C | |
| ENST00000682382.1:c.1057-4A>C | ||
| ENST00000682395.1:n.1663-4A>C | ||
| ENST00000682459.1:n.1188-4A>C | ||
| ENST00000682467.1:c.1485-4A>C | ENSP00000508062.1:n.1485-4A>C | |
| ENST00000682560.1:c.152+436A>C | ENSP00000507033.1:n.152+436A>C | |
| ENST00000682795.1:c.1485-4A>C | ENSP00000507574.1:n.1485-4A>C | |
| ENST00000682895.1:n.1201-4A>C | ||
| ENST00000682955.1:n.773-4A>C | ||
| ENST00000683188.1:c.1460-4A>C | ||
| ENST00000683380.1:n.1149-4A>C | ||
| ENST00000683828.1:c.1194-4A>C | ||
| ENST00000684259.1:n.1336-4A>C | ||
| ENST00000684444.1:c.236-4A>C | ||
| ENST00000684549.1:n.1036-4A>C | ||
| ENST00000261534.9:c.1485-4A>C MANE Select | ENSP00000261534.4:n.1485-4A>C | |
| ENST00000261534.8:c.1485-4A>C | ENSP00000261534.4:n.1485-4A>C | |
| ENST00000452340.7:n.1508-4A>C | ||
| ENST00000554767.5:n.2271-4A>C | ||
| ENST00000554884.5:n.477-4A>C | ||
| ENST00000555134.1:n.124-4A>C | ||
| NM_013382.5:c.1485-4A>C , LRG_844t1:c.1485-4A>C | NP_037514.2:n.1485-4A>C | |
| XM_011536675.1:c.1485-4A>C | XP_011534977.1:n.1485-4A>C | |
| XM_011536676.1:c.1152-4A>C | XP_011534978.1:n.1152-4A>C | |
| XM_011536677.1:c.1026-4A>C | XP_011534979.1:n.1026-4A>C | |
| XM_011536678.1:c.1485-4A>C | XP_011534980.1:n.1485-4A>C | |
| XM_011536679.1:c.579-4A>C | XP_011534981.1:n.579-4A>C | |
| XR_943416.1:n.1688-4A>C | ||
| XM_011536675.2:c.1485-4A>C | XP_011534977.1:n.1485-4A>C | |
| XM_011536676.2:c.1152-4A>C | XP_011534978.1:n.1152-4A>C | |
| XM_011536677.3:c.1026-4A>C | XP_011534979.1:n.1026-4A>C | |
| XR_001750279.1:n.1685-4A>C | ||
| XR_001750282.1:n.2138-4A>C | ||
| XR_943416.3:n.1686-4A>C | ||
| NM_013382.6:c.1485-4A>C | NP_037514.2:n.1485-4A>C | |
| NM_013382.7:c.1485-4A>C MANE Select | NP_037514.2:n.1485-4A>C |