Linked Data
ClinVar Variation Id:
1236786
ClinVar RCV Id:
RCV001639301
dbSNP Id:
rs150422713
ExAC:
14:21873856 T / G
gnomAD v2:
14-21873856-T-G
gnomAD v3:
14-21405697-T-G
gnomAD v4:
14-21405697-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21405697T>G , CM000676.2:g.21405697T>G | GRCh38 |
| NC_000014.8:g.21873856T>G , CM000676.1:g.21873856T>G | GRCh37 |
| NC_000014.7:g.20943696T>G | NCBI36 |
| NG_021249.1:g.36602A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.2214+24A>C | ENSP00000406288.3:n.2214+24A>C | |
| ENST00000555935.2:c.727+24A>C | ||
| ENST00000555962.6:c.-110-2655A>C | ENSP00000495174.1:n.-110-2655A>C | |
| ENST00000557364.6:c.3051+24A>C | ENSP00000451601.1:n.3051+24A>C | |
| ENST00000643469.1:c.3051+24A>C | ENSP00000495070.1:n.3051+24A>C | |
| ENST00000645140.1:c.2963+24A>C | ||
| ENST00000645206.1:n.1565+24A>C | ||
| ENST00000645929.1:c.2214+24A>C | ENSP00000494402.1:n.2214+24A>C | |
| ENST00000646340.1:c.3057+24A>C | ENSP00000496730.1:n.3057+24A>C | |
| ENST00000646647.2:c.3051+24A>C MANE Select | ENSP00000495240.1:n.3051+24A>C | |
| ENST00000399982.6:c.3051+24A>C | ENSP00000382863.2:n.3051+24A>C | |
| ENST00000430710.7:c.2214+24A>C | ENSP00000406288.3:n.2214+24A>C | |
| ENST00000555935.1:c.727+24A>C | ||
| ENST00000555962.5:n.151-2655A>C | ||
| ENST00000557364.5:c.3051+24A>C | ENSP00000451601.1:n.3051+24A>C | |
| NM_001170629.1:c.3051+24A>C | NP_001164100.1:n.3051+24A>C | |
| NM_020920.3:c.2214+24A>C | NP_065971.2:n.2214+24A>C | |
| NM_001170629.2:c.3051+24A>C MANE Select | NP_001164100.1:n.3051+24A>C | |
| NM_020920.4:c.2214+24A>C | NP_065971.2:n.2214+24A>C |