Linked Data
dbSNP Id:
rs10238623
gnomAD v2:
7-28812493-A-G
gnomAD v3:
7-28772876-A-G
gnomAD v4:
7-28772876-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28772876A>G , CM000669.2:g.28772876A>G | GRCh38 |
| NC_000007.13:g.28812493A>G , CM000669.1:g.28812493A>G | GRCh37 |
| NC_000007.12:g.28779018A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357727.7:c.703-31323A>G MANE Select | ENSP00000350359.2:n.703-31323A>G | |
| ENST00000357727.6:c.703-31323A>G | ENSP00000350359.2:n.703-31323A>G | |
| ENST00000396298.6:c.286-31323A>G | ENSP00000379592.2:n.286-31323A>G | |
| ENST00000396299.6:c.604-31323A>G | ENSP00000379593.2:n.604-31323A>G | |
| ENST00000396300.6:c.682-31323A>G | ENSP00000379594.2:n.682-31323A>G | |
| ENST00000409603.5:c.604-31323A>G | ENSP00000387197.1:n.604-31323A>G | |
| ENST00000426500.5:c.181-31323A>G | ENSP00000394979.1:n.181-31323A>G | |
| ENST00000484383.1:n.300-6069A>G | ||
| NM_001011666.2:c.286-31323A>G | NP_001011666.1:n.286-31323A>G | |
| NM_004904.3:c.682-31323A>G | NP_004895.2:n.682-31323A>G | |
| NM_182898.3:c.703-31323A>G | NP_878901.2:n.703-31323A>G | |
| NM_182899.4:c.604-31323A>G | NP_878902.2:n.604-31323A>G | |
| XM_005249906.1:c.682-31323A>G | XP_005249963.1:n.682-31323A>G | |
| XM_011515616.1:c.682-31323A>G | XP_011513918.1:n.682-31323A>G | |
| XM_011515617.1:c.604-31323A>G | XP_011513919.1:n.604-31323A>G | |
| XM_017012806.1:c.682-31323A>G | XP_016868295.1:n.682-31323A>G | |
| XM_017012807.1:c.790-31323A>G | XP_016868296.1:n.790-31323A>G | |
| XM_017012808.1:c.703-31323A>G | XP_016868297.1:n.703-31323A>G | |
| XM_017012809.1:c.682-31323A>G | XP_016868298.1:n.682-31323A>G | |
| XM_017012810.1:c.286-31323A>G | XP_016868299.1:n.286-31323A>G | |
| XM_024447005.1:c.604-31323A>G | XP_024302773.1:n.604-31323A>G | |
| XR_001744893.2:n.475-31323A>G | ||
| NM_182898.4:c.703-31323A>G MANE Select | NP_878901.2:n.703-31323A>G | |
| NM_001011666.3:c.286-31323A>G | NP_001011666.1:n.286-31323A>G | |
| NM_004904.4:c.682-31323A>G | NP_004895.2:n.682-31323A>G | |
| NM_182899.5:c.604-31323A>G | NP_878902.2:n.604-31323A>G |