Linked Data
dbSNP Id:
rs1161463
gnomAD v2:
13-29431338-A-G
gnomAD v3:
13-28857201-A-G
gnomAD v4:
13-28857201-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28857201A>G , CM000675.2:g.28857201A>G | GRCh38 |
| NC_000013.10:g.29431338A>G , CM000675.1:g.29431338A>G | GRCh37 |
| NC_000013.9:g.28329338A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612955.6:c.-243+17351A>G MANE Select | ENSP00000483729.2:n.-243+17351A>G | |
| ENST00000612955.4:c.-213+17351A>G | ENSP00000483729.1:n.-213+17351A>G | |
| XM_011535019.1:c.-213+17351A>G | XP_011533321.1:n.-213+17351A>G | |
| XM_011535020.1:c.-213+17351A>G | XP_011533322.1:n.-213+17351A>G | |
| XM_011535021.1:c.-213+17351A>G | XP_011533323.1:n.-213+17351A>G | |
| NM_001366650.1:c.-243+17351A>G | NP_001353579.1:n.-243+17351A>G | |
| NM_001366651.1:c.-243+17351A>G | NP_001353580.1:n.-243+17351A>G | |
| XM_011535019.3:c.-213+17351A>G | XP_011533321.1:n.-213+17351A>G | |
| XM_011535020.3:c.-213+17351A>G | XP_011533322.1:n.-213+17351A>G | |
| XM_017020500.2:c.-213+17351A>G | XP_016875989.1:n.-213+17351A>G | |
| XM_017020501.2:c.-213+17351A>G | XP_016875990.1:n.-213+17351A>G | |
| NM_001033602.4:c.-243+17351A>G MANE Select | NP_001028774.3:n.-243+17351A>G | |
| NM_001384605.1:c.-243+17351A>G | NP_001371534.1:n.-243+17351A>G | |
| NM_001384606.1:c.-243+36590A>G | NP_001371535.1:n.-243+36590A>G |