Linked Data
dbSNP Id:
rs181166265
gnomAD v2:
8-80985035-T-C
gnomAD v3:
8-80072800-T-C
gnomAD v4:
8-80072800-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.80072800T>C , CM000670.2:g.80072800T>C | GRCh38 |
| NC_000008.10:g.80985035T>C , CM000670.1:g.80985035T>C | GRCh37 |
| NC_000008.9:g.81147590T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000518937.6:c.20-8207A>G MANE Select | ENSP00000429915.1:n.20-8207A>G | |
| ENST00000379096.9:c.20-8207A>G | ENSP00000368390.4:n.20-8207A>G | |
| ENST00000379097.7:c.139+7515A>G | ENSP00000368391.3:n.139+7515A>G | |
| ENST00000448733.3:c.139+7515A>G | ENSP00000410222.2:n.139+7515A>G | |
| ENST00000517427.5:c.139+7515A>G | ENSP00000429351.1:n.139+7515A>G | |
| ENST00000517462.6:c.139+7515A>G | ENSP00000429708.1:n.139+7515A>G | |
| ENST00000518517.5:c.90-8207A>G | ENSP00000430421.1:n.90-8207A>G | |
| ENST00000518937.5:c.20-8207A>G | ENSP00000429915.1:n.20-8207A>G | |
| ENST00000519250.5:n.236-8207A>G | ||
| ENST00000519303.6:c.-422-8207A>G | ENSP00000428951.1:n.-422-8207A>G | |
| ENST00000520527.5:c.139+7515A>G | ENSP00000429309.1:n.139+7515A>G | |
| ENST00000520741.1:n.299+7515A>G | ||
| ENST00000520795.5:c.178-8207A>G | ||
| ENST00000521241.6:c.20-8207A>G | ENSP00000430323.1:n.20-8207A>G | |
| ENST00000521354.5:c.20-19370A>G | ENSP00000430646.1:n.20-19370A>G | |
| ENST00000521561.1:n.452-8207A>G | ||
| ENST00000522364.5:n.300+7515A>G | ||
| ENST00000522938.5:c.139+7515A>G | ENSP00000430858.2:n.139+7515A>G | |
| ENST00000523753.5:c.90-8207A>G | ENSP00000430140.1:n.90-8207A>G | |
| ENST00000523783.1:n.83-5443A>G | ||
| NM_001025252.2:c.139+7515A>G | NP_001020423.1:n.139+7515A>G | |
| NM_001025253.2:c.20-8207A>G | NP_001020424.1:n.20-8207A>G | |
| NM_001287140.1:c.139+7515A>G | NP_001274069.1:n.139+7515A>G | |
| NM_001287142.1:c.139+7515A>G | NP_001274071.1:n.139+7515A>G | |
| NM_001287143.1:c.139+7515A>G | NP_001274072.1:n.139+7515A>G | |
| NM_001287144.1:c.20-8207A>G | NP_001274073.1:n.20-8207A>G | |
| NM_005079.3:c.20-8207A>G | NP_005070.1:n.20-8207A>G | |
| NR_105033.1:n.517+7515A>G | ||
| NR_105034.1:n.236-19370A>G | ||
| NR_105035.1:n.306-8207A>G | ||
| NR_105036.1:n.181-8207A>G | ||
| NR_105037.1:n.251-8207A>G | ||
| NM_001025252.3:c.139+7515A>G | NP_001020423.1:n.139+7515A>G | |
| NM_001025253.3:c.20-8207A>G MANE Select | NP_001020424.1:n.20-8207A>G | |
| NM_001287140.2:c.139+7515A>G | NP_001274069.1:n.139+7515A>G | |
| NM_001287143.2:c.139+7515A>G | NP_001274072.1:n.139+7515A>G | |
| NM_001287144.2:c.20-8207A>G | NP_001274073.1:n.20-8207A>G | |
| NM_005079.4:c.20-8207A>G | NP_005070.1:n.20-8207A>G | |
| NR_105033.2:n.516+7515A>G | ||
| NR_105034.2:n.141-19370A>G | ||
| NR_105035.2:n.211-8207A>G | ||
| NR_105036.2:n.102-8207A>G | ||
| NR_105037.2:n.172-8207A>G | ||
| NM_001287142.2:c.139+7515A>G | NP_001274071.1:n.139+7515A>G | |
| NM_001387778.1:c.20-8207A>G | NP_001374707.1:n.20-8207A>G | |
| NM_001387779.1:c.20-8207A>G | NP_001374708.1:n.20-8207A>G | |
| NM_001387780.1:c.44-8207A>G | NP_001374709.1:n.44-8207A>G | |
| NR_170693.1:n.141-8207A>G | ||
| NR_170694.1:n.141-8207A>G |