Linked Data
dbSNP Id:
rs17007017
gnomAD v2:
4-142142729-A-G
gnomAD v3:
4-141221575-A-G
gnomAD v4:
4-141221575-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141221575A>G , CM000666.2:g.141221575A>G | GRCh38 |
| NC_000004.11:g.142142729A>G , CM000666.1:g.142142729A>G | GRCh37 |
| NC_000004.10:g.142362179A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262990.9:c.-7+467A>G MANE Select | ENSP00000262990.4:n.-7+467A>G | |
| ENST00000262990.8:c.-7+467A>G | ENSP00000262990.4:n.-7+467A>G | |
| ENST00000503649.5:c.-7+498A>G | ENSP00000422966.1:n.-7+498A>G | |
| ENST00000506302.1:c.-7+467A>G | ENSP00000427201.1:n.-7+467A>G | |
| ENST00000507532.5:c.-7+467A>G | ENSP00000422574.1:n.-7+467A>G | |
| ENST00000512738.5:c.-7+559A>G | ENSP00000422251.1:n.-7+559A>G | |
| ENST00000512809.5:c.-7+521A>G | ENSP00000422599.1:n.-7+521A>G | |
| ENST00000514826.5:n.222+467A>G | ||
| ENST00000515453.5:c.-7+467A>G | ENSP00000423217.1:n.-7+467A>G | |
| NM_001292002.1:c.-116+467A>G | NP_001278931.1:n.-116+467A>G | |
| NM_014487.5:c.-7+467A>G | NP_055302.1:n.-7+467A>G | |
| XM_011531875.1:c.-6-791A>G | XP_011530177.1:n.-6-791A>G | |
| XM_017008033.1:c.-6-791A>G | XP_016863522.1:n.-6-791A>G | |
| XM_024453986.1:c.-7+498A>G | XP_024309754.1:n.-7+498A>G | |
| NM_014487.6:c.-7+467A>G MANE Select | NP_055302.1:n.-7+467A>G | |
| NM_001292002.2:c.-116+467A>G | NP_001278931.1:n.-116+467A>G |