Linked Data
dbSNP Id:
rs1532269
gnomAD v2:
5-32018841-C-G
gnomAD v3:
5-32018735-C-G
gnomAD v4:
5-32018735-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32018735C>G , CM000667.2:g.32018735C>G | GRCh38 |
| NC_000005.9:g.32018841C>G , CM000667.1:g.32018841C>G | GRCh37 |
| NC_000005.8:g.32054598C>G | NCBI36 |
| NG_033962.1:g.224812C>G | |
| NG_033962.2:g.384326C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438447.2:c.1407+8253C>G MANE Select | ENSP00000402033.1:n.1407+8253C>G | |
| ENST00000438447.1:c.1407+8253C>G | ENSP00000402033.1:n.1407+8253C>G | |
| ENST00000502489.5:n.1163+8253C>G | ||
| NM_178140.2:c.1407+8253C>G | NP_835260.2:n.1407+8253C>G | |
| XM_005248269.3:c.1407+8253C>G | XP_005248326.1:n.1407+8253C>G | |
| XM_005248270.3:c.1407+8253C>G | XP_005248327.1:n.1407+8253C>G | |
| XM_005248271.1:c.885+8253C>G | XP_005248328.1:n.885+8253C>G | |
| XM_005248272.3:c.885+8253C>G | XP_005248329.1:n.885+8253C>G | |
| XM_006714460.2:c.414+8253C>G | XP_006714523.1:n.414+8253C>G | |
| XM_011513992.1:c.1407+8253C>G | XP_011512294.1:n.1407+8253C>G | |
| XM_011513993.1:c.1407+8253C>G | XP_011512295.1:n.1407+8253C>G | |
| XM_011513994.1:c.1407+8253C>G | XP_011512296.1:n.1407+8253C>G | |
| XM_011513995.1:c.1407+8253C>G | XP_011512297.1:n.1407+8253C>G | |
| XM_011513996.1:c.1131+8253C>G | XP_011512298.1:n.1131+8253C>G | |
| XM_011513997.1:c.1407+8253C>G | XP_011512299.1:n.1407+8253C>G | |
| NM_178140.3:c.1407+8253C>G | NP_835260.2:n.1407+8253C>G | |
| XM_005248269.4:c.1407+8253C>G | XP_005248326.1:n.1407+8253C>G | |
| XM_005248272.4:c.885+8253C>G | XP_005248329.1:n.885+8253C>G | |
| XM_011513992.2:c.1407+8253C>G | XP_011512294.1:n.1407+8253C>G | |
| XM_011513993.2:c.1407+8253C>G | XP_011512295.1:n.1407+8253C>G | |
| XM_011513994.2:c.1407+8253C>G | XP_011512296.1:n.1407+8253C>G | |
| XM_011513995.2:c.1407+8253C>G | XP_011512297.1:n.1407+8253C>G | |
| XM_011513996.2:c.1131+8253C>G | XP_011512298.1:n.1131+8253C>G | |
| XM_017009245.1:c.609+8253C>G | XP_016864734.1:n.609+8253C>G | |
| XM_017009246.1:c.414+8253C>G | XP_016864735.1:n.414+8253C>G | |
| NM_178140.4:c.1407+8253C>G MANE Select | NP_835260.2:n.1407+8253C>G |