Linked Data
dbSNP Id:
rs11265452
gnomAD v2:
1-160594238-A-G
gnomAD v3:
1-160624448-A-G
gnomAD v4:
1-160624448-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160624448A>G , CM000663.2:g.160624448A>G | GRCh38 |
| NC_000001.10:g.160594238A>G , CM000663.1:g.160594238A>G | GRCh37 |
| NC_000001.9:g.158860862A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302035.11:c.701-263T>C MANE Select | ENSP00000306190.6:n.701-263T>C | |
| ENST00000235739.6:c.369+12789T>C | ENSP00000235739.6:n.369+12789T>C | |
| ENST00000302035.10:c.701-263T>C | ENSP00000306190.6:n.701-263T>C | |
| ENST00000538290.2:c.701-263T>C | ENSP00000438406.2:n.701-263T>C | |
| NM_003037.3:c.701-263T>C | NP_003028.1:n.701-263T>C | |
| NR_104399.1:n.1067-263T>C | ||
| NR_104400.1:n.1066+10165T>C | ||
| NR_104401.1:n.1062-263T>C | ||
| XM_005245456.2:c.701-4599T>C | XP_005245513.1:n.701-4599T>C | |
| XM_011509905.1:c.284-263T>C | XP_011508207.1:n.284-263T>C | |
| NM_001330754.1:c.701-263T>C | NP_001317683.1:n.701-263T>C | |
| NM_003037.4:c.701-263T>C | NP_003028.1:n.701-263T>C | |
| NR_104399.2:n.1067-263T>C | ||
| NR_104400.2:n.1066+10165T>C | ||
| NR_104401.2:n.1062-263T>C | ||
| XM_005245456.4:c.701-4599T>C | XP_005245513.1:n.701-4599T>C | |
| XM_011509905.3:c.284-263T>C | XP_011508207.1:n.284-263T>C | |
| XM_017002130.2:c.701-263T>C | XP_016857619.1:n.701-263T>C | |
| XM_017002131.2:c.284-263T>C | XP_016857620.1:n.284-263T>C | |
| NR_104399.3:n.800-263T>C | ||
| NR_104400.3:n.799+10165T>C | ||
| NR_104401.3:n.795-263T>C | ||
| NM_001330754.2:c.701-263T>C | NP_001317683.1:n.701-263T>C | |
| NM_003037.5:c.701-263T>C MANE Select | NP_003028.1:n.701-263T>C |