Linked Data
dbSNP Id:
rs2278729
gnomAD v2:
2-101668857-G-A
gnomAD v3:
2-101052395-G-A
gnomAD v4:
2-101052395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.101052395G>A , CM000664.2:g.101052395G>A | GRCh38 |
| NC_000002.11:g.101668857G>A , CM000664.1:g.101668857G>A | GRCh37 |
| NC_000002.10:g.101035289G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409318.2:c.631+1713C>T MANE Select | ENSP00000386856.1:n.631+1713C>T | |
| ENST00000376840.8:c.586+1713C>T | ENSP00000366036.4:n.586+1713C>T | |
| ENST00000409318.1:c.631+1713C>T | ENSP00000386856.1:n.631+1713C>T | |
| NM_001102426.1:c.586+1713C>T | NP_001095896.1:n.586+1713C>T | |
| XM_005263862.2:c.652+1713C>T | XP_005263919.1:n.652+1713C>T | |
| XM_005263863.3:c.631+1713C>T | XP_005263920.1:n.631+1713C>T | |
| XM_005263864.2:c.607+1713C>T | XP_005263921.1:n.607+1713C>T | |
| XM_011510506.1:c.625+1713C>T | XP_011508808.1:n.625+1713C>T | |
| XM_011510507.1:c.568+1713C>T | XP_011508809.1:n.568+1713C>T | |
| XM_011510508.1:c.631+1713C>T | XP_011508810.1:n.631+1713C>T | |
| NM_001102426.2:c.586+1713C>T | NP_001095896.1:n.586+1713C>T | |
| NM_001330348.1:c.631+1713C>T | NP_001317277.1:n.631+1713C>T | |
| NR_138475.1:n.780+1713C>T | ||
| XM_005263862.4:c.652+1713C>T | XP_005263919.1:n.652+1713C>T | |
| XM_005263864.4:c.607+1713C>T | XP_005263921.1:n.607+1713C>T | |
| XM_011510507.2:c.568+1713C>T | XP_011508809.1:n.568+1713C>T | |
| XM_011510508.3:c.631+1713C>T | XP_011508810.1:n.631+1713C>T | |
| XM_017003198.2:c.652+1713C>T | XP_016858687.1:n.652+1713C>T | |
| XM_017003199.2:c.607+1713C>T | XP_016858688.1:n.607+1713C>T | |
| XM_017003200.2:c.652+1713C>T | XP_016858689.1:n.652+1713C>T | |
| XM_017003201.2:c.652+1713C>T | XP_016858690.1:n.652+1713C>T | |
| XM_017003202.2:c.652+1713C>T | XP_016858691.1:n.652+1713C>T | |
| NM_001102426.3:c.586+1713C>T | NP_001095896.1:n.586+1713C>T | |
| NM_001330348.2:c.631+1713C>T MANE Select | NP_001317277.1:n.631+1713C>T | |
| NR_138475.2:n.715+1713C>T |