Linked Data
dbSNP Id:
rs3821502
gnomAD v2:
3-134912567-A-G
gnomAD v3:
3-135193725-A-G
gnomAD v4:
3-135193725-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.135193725A>G , CM000665.2:g.135193725A>G | GRCh38 |
| NC_000003.11:g.134912567A>G , CM000665.1:g.134912567A>G | GRCh37 |
| NC_000003.10:g.136395257A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398015.8:c.2130+902A>G MANE Select | ENSP00000381097.3:n.2130+902A>G | |
| ENST00000647596.1:c.2130+902A>G | ENSP00000497153.1:n.2130+902A>G | |
| ENST00000398015.7:c.2130+902A>G | ENSP00000381097.3:n.2130+902A>G | |
| ENST00000493838.1:c.813+902A>G | ENSP00000419574.1:n.813+902A>G | |
| NM_004441.4:c.2130+902A>G | NP_004432.1:n.2130+902A>G | |
| XM_011512540.1:c.2112+902A>G | XP_011510842.1:n.2112+902A>G | |
| XM_011512541.1:c.2064+902A>G | XP_011510843.1:n.2064+902A>G | |
| XM_011512542.1:c.360+902A>G | XP_011510844.1:n.360+902A>G | |
| XM_017005866.2:c.2292+902A>G | XP_016861355.1:n.2292+902A>G | |
| XM_017005867.1:c.2274+902A>G | XP_016861356.1:n.2274+902A>G | |
| XM_024453389.1:c.2226+902A>G | XP_024309157.1:n.2226+902A>G | |
| XM_024453390.1:c.2226+902A>G | XP_024309158.1:n.2226+902A>G | |
| NM_004441.5:c.2130+902A>G MANE Select | NP_004432.1:n.2130+902A>G |