Linked Data
dbSNP Id:
rs10279573
gnomAD v2:
7-110467221-C-T
gnomAD v3:
7-110827165-C-T
gnomAD v4:
7-110827165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.110827165C>T , CM000669.2:g.110827165C>T | GRCh38 |
| NC_000007.13:g.110467221C>T , CM000669.1:g.110467221C>T | GRCh37 |
| NC_000007.12:g.110254457C>T | NCBI36 |
| NG_030016.1:g.740353G>A | |
| NG_030016.2:g.740353G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405709.7:c.408+59428G>A MANE Select | ENSP00000384966.2:n.408+59428G>A | |
| ENST00000331762.7:c.408+59428G>A | ENSP00000329553.3:n.408+59428G>A | |
| ENST00000405709.6:c.408+59428G>A | ENSP00000384966.2:n.408+59428G>A | |
| ENST00000450877.5:c.354+59428G>A | ENSP00000402824.1:n.354+59428G>A | |
| ENST00000452895.5:c.408+59428G>A | ENSP00000399353.1:n.408+59428G>A | |
| ENST00000487733.5:n.66+136335G>A | ||
| ENST00000489381.1:n.246+136335G>A | ||
| NM_001244606.1:c.408+59428G>A | NP_001231535.1:n.408+59428G>A | |
| NM_032549.3:c.408+59428G>A | NP_115938.1:n.408+59428G>A | |
| XM_005250630.3:c.408+59428G>A | XP_005250687.1:n.408+59428G>A | |
| XM_011516605.1:c.492+59428G>A | XP_011514907.1:n.492+59428G>A | |
| XM_011516608.1:c.492+59428G>A | XP_011514910.1:n.492+59428G>A | |
| XM_011516609.1:c.389+136335G>A | XP_011514911.1:n.389+136335G>A | |
| XM_011516613.1:c.305+136335G>A | XP_011514915.1:n.305+136335G>A | |
| NM_001350959.1:c.408+59428G>A | NP_001337888.1:n.408+59428G>A | |
| NM_001350960.1:c.408+59428G>A | NP_001337889.1:n.408+59428G>A | |
| NM_001350961.1:c.492+59428G>A | NP_001337890.1:n.492+59428G>A | |
| NM_001350963.1:c.305+136335G>A | NP_001337892.1:n.305+136335G>A | |
| XM_011516608.2:c.492+59428G>A | XP_011514910.1:n.492+59428G>A | |
| XM_011516609.2:c.389+136335G>A | XP_011514911.1:n.389+136335G>A | |
| XM_017012704.1:c.492+59428G>A | XP_016868193.1:n.492+59428G>A | |
| XM_024446956.1:c.285+59428G>A | XP_024302724.1:n.285+59428G>A | |
| NM_001244606.2:c.408+59428G>A | NP_001231535.1:n.408+59428G>A | |
| NM_001350959.2:c.408+59428G>A | NP_001337888.1:n.408+59428G>A | |
| NM_001350960.2:c.408+59428G>A | NP_001337889.1:n.408+59428G>A | |
| NM_001350961.2:c.492+59428G>A | NP_001337890.1:n.492+59428G>A | |
| NM_001350963.2:c.305+136335G>A | NP_001337892.1:n.305+136335G>A | |
| NM_032549.4:c.408+59428G>A MANE Select | NP_115938.1:n.408+59428G>A |