Linked Data
dbSNP Id:
rs1230330675
gnomAD v2:
4-73942596-A-C
gnomAD v3:
4-73076879-A-C
gnomAD v4:
4-73076879-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73076879A>C , CM000666.2:g.73076879A>C | GRCh38 |
| NC_000004.11:g.73942596A>C , CM000666.1:g.73942596A>C | GRCh37 |
| NC_000004.10:g.74161460A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358602.9:c.7752+61T>G MANE Select | ENSP00000351416.4:n.7752+61T>G | |
| ENST00000330838.10:c.6999+61T>G | ENSP00000332265.6:n.6999+61T>G | |
| ENST00000358602.8:c.7752+61T>G | ENSP00000351416.4:n.7752+61T>G | |
| ENST00000509867.6:c.7413+61T>G | ENSP00000427151.2:n.7413+61T>G | |
| ENST00000558247.5:c.7403+61T>G | ||
| NM_001286771.1:c.7413+61T>G | NP_001273700.1:n.7413+61T>G | |
| NM_032217.3:c.7752+61T>G | NP_115593.3:n.7752+61T>G | |
| NM_198889.1:c.6999+61T>G | NP_942592.1:n.6999+61T>G | |
| XM_005265667.3:c.7749+61T>G | XP_005265724.1:n.7749+61T>G | |
| XM_005265671.3:c.6996+61T>G | XP_005265728.1:n.6996+61T>G | |
| NM_001286771.2:c.7413+61T>G | NP_001273700.1:n.7413+61T>G | |
| NM_015574.1:c.7749+61T>G | NP_056389.1:n.7749+61T>G | |
| NM_032217.4:c.7752+61T>G | NP_115593.3:n.7752+61T>G | |
| NM_198889.2:c.6999+61T>G | NP_942592.1:n.6999+61T>G | |
| XM_005265671.4:c.6996+61T>G | XP_005265728.1:n.6996+61T>G | |
| XM_017008011.1:c.7410+61T>G | XP_016863500.1:n.7410+61T>G | |
| XM_017008012.1:c.6660+61T>G | XP_016863501.1:n.6660+61T>G | |
| XM_017008013.1:c.6657+61T>G | XP_016863502.1:n.6657+61T>G | |
| NM_001286771.3:c.7413+61T>G | NP_001273700.1:n.7413+61T>G | |
| NM_015574.2:c.7749+61T>G | NP_056389.1:n.7749+61T>G | |
| NM_032217.5:c.7752+61T>G MANE Select | NP_115593.3:n.7752+61T>G | |
| NM_198889.3:c.6999+61T>G | NP_942592.1:n.6999+61T>G |