Linked Data
dbSNP Id:
rs10501920
gnomAD v2:
11-99493173-C-G
gnomAD v3:
11-99622442-C-G
gnomAD v4:
11-99622442-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.99622442C>G , CM000673.2:g.99622442C>G | GRCh38 |
| NC_000011.9:g.99493173C>G , CM000673.1:g.99493173C>G | GRCh37 |
| NC_000011.8:g.98998383C>G | NCBI36 |
| NG_047156.1:g.606467C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524871.6:c.55+66173C>G MANE Select | ENSP00000435637.1:n.55+66173C>G | |
| ENST00000418526.6:c.55+66173C>G | ENSP00000393229.2:n.55+66173C>G | |
| ENST00000524871.5:c.55+66173C>G | ENSP00000435637.1:n.55+66173C>G | |
| ENST00000527185.5:c.55+66173C>G | ENSP00000433575.1:n.55+66173C>G | |
| ENST00000528682.5:c.55+66173C>G | ENSP00000436185.1:n.55+66173C>G | |
| ENST00000528727.5:n.559+66173C>G | ||
| NM_001243270.1:c.55+66173C>G | NP_001230199.1:n.55+66173C>G | |
| NM_001243271.1:c.55+66173C>G | NP_001230200.1:n.55+66173C>G | |
| NM_014361.3:c.55+66173C>G | NP_055176.1:n.55+66173C>G | |
| NM_175566.2:c.55+66173C>G | NP_780775.1:n.55+66173C>G | |
| XM_011542871.1:c.55+66173C>G | XP_011541173.1:n.55+66173C>G | |
| XM_011542872.1:c.55+66173C>G | XP_011541174.1:n.55+66173C>G | |
| XM_011542873.1:c.55+66173C>G | XP_011541175.1:n.55+66173C>G | |
| XM_017017926.1:c.55+66173C>G | XP_016873415.1:n.55+66173C>G | |
| XM_017017927.1:c.55+66173C>G | XP_016873416.1:n.55+66173C>G | |
| XM_017017928.1:c.55+66173C>G | XP_016873417.1:n.55+66173C>G | |
| XM_017017929.1:c.55+66173C>G | XP_016873418.1:n.55+66173C>G | |
| XR_001747909.1:n.559+66173C>G | ||
| NM_014361.4:c.55+66173C>G MANE Select | NP_055176.1:n.55+66173C>G | |
| NM_001243270.2:c.55+66173C>G | NP_001230199.1:n.55+66173C>G | |
| NM_001243271.2:c.55+66173C>G | NP_001230200.1:n.55+66173C>G |