Linked Data
dbSNP Id:
rs17739703
gnomAD v2:
18-30523288-T-C
gnomAD v3:
18-32943324-T-C
gnomAD v4:
18-32943324-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.32943324T>C , CM000680.2:g.32943324T>C | GRCh38 |
| NC_000018.9:g.30523288T>C , CM000680.1:g.30523288T>C | GRCh37 |
| NC_000018.8:g.28777286T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383096.8:c.2524-5233A>G MANE Select | ENSP00000372576.3:n.2524-5233A>G | |
| ENST00000300227.12:c.2410-5233A>G | ENSP00000300227.8:n.2410-5233A>G | |
| ENST00000383096.7:c.2524-5233A>G | ENSP00000372576.3:n.2524-5233A>G | |
| ENST00000403303.5:c.2524-5233A>G | ENSP00000385591.1:n.2524-5233A>G | |
| ENST00000406524.6:c.2596-5233A>G | ENSP00000385867.2:n.2596-5233A>G | |
| ENST00000579916.5:c.484-5233A>G | ENSP00000462153.1:n.484-5233A>G | |
| ENST00000581524.5:c.1015-5233A>G | ENSP00000462651.1:n.1015-5233A>G | |
| ENST00000581852.5:c.139-5233A>G | ENSP00000464295.1:n.139-5233A>G | |
| ENST00000583930.5:c.2596-5233A>G | ENSP00000463254.1:n.2596-5233A>G | |
| NM_001105528.1:c.2524-5233A>G | NP_001098998.1:n.2524-5233A>G | |
| NM_001308126.1:c.2596-5233A>G | NP_001295055.1:n.2596-5233A>G | |
| NM_198995.2:c.2410-5233A>G | NP_945346.2:n.2410-5233A>G | |
| XM_011525948.1:c.2524-5233A>G | XP_011524250.1:n.2524-5233A>G | |
| XM_011525951.1:c.2374-5233A>G | XP_011524253.1:n.2374-5233A>G | |
| XR_935363.1:n.179+5047T>C | ||
| XM_017025721.1:c.2596-5233A>G | XP_016881210.1:n.2596-5233A>G | |
| XM_017025722.1:c.2596-5233A>G | XP_016881211.1:n.2596-5233A>G | |
| XM_017025723.1:c.2596-5233A>G | XP_016881212.1:n.2596-5233A>G | |
| XM_017025724.1:c.2110-5233A>G | XP_016881213.1:n.2110-5233A>G | |
| XM_017025725.1:c.2110-5233A>G | XP_016881214.1:n.2110-5233A>G | |
| XR_001753402.1:n.179+5047T>C | ||
| XR_935363.2:n.179+5047T>C | ||
| XR_935365.2:n.179+5047T>C | ||
| NM_001105528.3:c.2524-5233A>G | NP_001098998.1:n.2524-5233A>G | |
| NM_001308126.3:c.2596-5233A>G | NP_001295055.1:n.2596-5233A>G | |
| NM_001371120.1:c.2596-5233A>G | NP_001358049.1:n.2596-5233A>G | |
| NM_001371121.1:c.2596-5233A>G | NP_001358050.1:n.2596-5233A>G | |
| NM_198995.3:c.2410-5233A>G | NP_945346.2:n.2410-5233A>G | |
| NM_001105528.4:c.2524-5233A>G MANE Select | NP_001098998.1:n.2524-5233A>G |