Linked Data
dbSNP Id:
rs753955096
ExAC:
14:77753081 A / G
gnomAD v2:
14-77753081-A-G
gnomAD v4:
14-77286738-A-G
MyVariant Identifiers:
chr14:g.77753081A>G (hg19)
chr14:g.77753081_77753090delinsGCTTACTATG (hg19)
chr14:g.77286738A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286738A>G , CM000676.2:g.77286738A>G | GRCh38 |
| NC_000014.8:g.77753081A>G , CM000676.1:g.77753081A>G | GRCh37 |
| NC_000014.7:g.76822834A>G | NCBI36 |
| NG_008897.1:g.39145T>C , LRG_844:g.39145T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.873+6T>C | ENSP00000451967.2:n.873+6T>C | |
| ENST00000682247.1:c.1332+6T>C | ENSP00000507213.1:n.1332+6T>C | |
| ENST00000682382.1:c.904+6T>C | ||
| ENST00000682395.1:n.1510+6T>C | ||
| ENST00000682459.1:n.1035+6T>C | ||
| ENST00000682467.1:c.1332+6T>C | ENSP00000508062.1:n.1332+6T>C | |
| ENST00000682795.1:c.1332+6T>C | ENSP00000507574.1:n.1332+6T>C | |
| ENST00000682895.1:n.1048+6T>C | ||
| ENST00000682955.1:n.620+6T>C | ||
| ENST00000683188.1:c.1307+6T>C | ||
| ENST00000683380.1:n.996+6T>C | ||
| ENST00000683828.1:c.1041+6T>C | ||
| ENST00000684259.1:n.1183+6T>C | ||
| ENST00000684444.1:c.83+2T>C | ||
| ENST00000684549.1:n.883+6T>C | ||
| ENST00000261534.9:c.1332+6T>C MANE Select | ENSP00000261534.4:n.1332+6T>C | |
| ENST00000261534.8:c.1332+6T>C | ENSP00000261534.4:n.1332+6T>C | |
| ENST00000452340.7:n.1355+6T>C | ||
| ENST00000553880.5:n.203+6T>C | ||
| ENST00000554767.5:n.2118+6T>C | ||
| ENST00000554884.5:n.324+6T>C | ||
| ENST00000556404.1:n.466+6T>C | ||
| ENST00000557675.5:n.422+6T>C | ||
| NM_013382.5:c.1332+6T>C , LRG_844t1:c.1332+6T>C | NP_037514.2:n.1332+6T>C | |
| XM_011536675.1:c.1332+6T>C | XP_011534977.1:n.1332+6T>C | |
| XM_011536676.1:c.999+6T>C | XP_011534978.1:n.999+6T>C | |
| XM_011536677.1:c.873+6T>C | XP_011534979.1:n.873+6T>C | |
| XM_011536678.1:c.1332+6T>C | XP_011534980.1:n.1332+6T>C | |
| XM_011536679.1:c.426+6T>C | XP_011534981.1:n.426+6T>C | |
| XR_943416.1:n.1535+6T>C | ||
| XM_011536675.2:c.1332+6T>C | XP_011534977.1:n.1332+6T>C | |
| XM_011536676.2:c.999+6T>C | XP_011534978.1:n.999+6T>C | |
| XM_011536677.3:c.873+6T>C | XP_011534979.1:n.873+6T>C | |
| XR_001750279.1:n.1532+6T>C | ||
| XR_001750282.1:n.1985+6T>C | ||
| XR_943416.3:n.1533+6T>C | ||
| NM_013382.6:c.1332+6T>C | NP_037514.2:n.1332+6T>C | |
| NM_013382.7:c.1332+6T>C MANE Select | NP_037514.2:n.1332+6T>C |