Linked Data
dbSNP Id:
rs1167871278
gnomAD v2:
14-21869268-G-C
gnomAD v3:
14-21401109-G-C
gnomAD v4:
14-21401109-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21401109G>C , CM000676.2:g.21401109G>C | GRCh38 |
| NC_000014.8:g.21869268G>C , CM000676.1:g.21869268G>C | GRCh37 |
| NC_000014.7:g.20939108G>C | NCBI36 |
| NG_021249.1:g.41190C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.3337-38C>G | ENSP00000406288.3:n.3337-38C>G | |
| ENST00000555935.2:c.1850-38C>G | ||
| ENST00000555962.6:c.265-802C>G | ENSP00000495174.1:n.265-802C>G | |
| ENST00000557364.6:c.4174-38C>G | ENSP00000451601.1:n.4174-38C>G | |
| ENST00000643469.1:c.4174-38C>G | ENSP00000495070.1:n.4174-38C>G | |
| ENST00000645206.1:n.2688-38C>G | ||
| ENST00000645929.1:c.3337-38C>G | ENSP00000494402.1:n.3337-38C>G | |
| ENST00000646340.1:c.4180-38C>G | ENSP00000496730.1:n.4180-38C>G | |
| ENST00000646558.1:n.728-38C>G | ||
| ENST00000646647.2:c.4174-38C>G MANE Select | ENSP00000495240.1:n.4174-38C>G | |
| ENST00000399982.6:c.4174-38C>G | ENSP00000382863.2:n.4174-38C>G | |
| ENST00000430710.7:c.3337-38C>G | ENSP00000406288.3:n.3337-38C>G | |
| ENST00000555935.1:c.1850-38C>G | ||
| ENST00000555962.5:n.525-802C>G | ||
| ENST00000557364.5:c.4174-38C>G | ENSP00000451601.1:n.4174-38C>G | |
| NM_001170629.1:c.4174-38C>G | NP_001164100.1:n.4174-38C>G | |
| NM_020920.3:c.3337-38C>G | NP_065971.2:n.3337-38C>G | |
| NM_001170629.2:c.4174-38C>G MANE Select | NP_001164100.1:n.4174-38C>G | |
| NM_020920.4:c.3337-38C>G | NP_065971.2:n.3337-38C>G |