Linked Data
dbSNP Id:
rs1317921469
gnomAD v2:
7-100489678-G-C
gnomAD v3:
7-100892057-G-C
gnomAD v4:
7-100892057-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100892057G>C , CM000669.2:g.100892057G>C | GRCh38 |
| NC_000007.13:g.100489678G>C , CM000669.1:g.100489678G>C | GRCh37 |
| NC_000007.12:g.100327614G>C | NCBI36 |
| NG_007474.1:g.8864C>G | |
| NG_007474.2:g.9077C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241069.11:c.1553+277C>G MANE Select | ENSP00000241069.5:n.1553+277C>G | |
| ENST00000411582.4:c.1553+277C>G | ENSP00000404865.1:n.1553+277C>G | |
| ENST00000428317.7:c.1553+277C>G | ENSP00000414858.1:n.1553+277C>G | |
| ENST00000651875.1:n.1996+277C>G | ||
| ENST00000241069.9:c.1553+277C>G | ENSP00000241069.5:n.1553+277C>G | |
| ENST00000302913.8:c.1553+277C>G | ENSP00000303211.4:n.1553+277C>G | |
| ENST00000411582.1:c.1553+277C>G | ENSP00000404865.1:n.1553+277C>G | |
| ENST00000412389.5:c.1553+277C>G | ENSP00000394976.1:n.1553+277C>G | |
| ENST00000419336.6:c.1289+277C>G | ENSP00000403474.2:n.1289+277C>G | |
| ENST00000426415.5:c.1068+1108C>G | ENSP00000397143.1:n.1068+1108C>G | |
| ENST00000428317.5:c.1553+277C>G | ENSP00000414858.1:n.1553+277C>G | |
| ENST00000430554.1:c.1179+651C>G | ENSP00000399725.1:n.1179+651C>G | |
| ENST00000440755.5:c.1069-719C>G | ENSP00000410380.1:n.1069-719C>G | |
| ENST00000442452.1:c.*1008+277C>G | ENSP00000415901.1:n.*1008+277C>G | |
| ENST00000454485.5:c.1200+630C>G | ENSP00000390004.1:n.1200+630C>G | |
| NM_000665.4:c.1553+277C>G | NP_000656.1:n.1553+277C>G | |
| NM_001282449.1:c.1289+277C>G | NP_001269378.1:n.1289+277C>G | |
| NM_001302621.1:c.1553+277C>G | NP_001289550.1:n.1553+277C>G | |
| NM_001302622.1:c.1553+277C>G | NP_001289551.1:n.1553+277C>G | |
| NM_015831.2:c.1553+277C>G | NP_056646.1:n.1553+277C>G | |
| XM_006715995.2:c.1553+277C>G | XP_006716058.1:n.1553+277C>G | |
| XM_011516225.1:c.2051+277C>G | XP_011514527.1:n.2051+277C>G | |
| XM_011516226.1:c.1787+277C>G | XP_011514528.1:n.1787+277C>G | |
| XM_011516227.1:c.1553+277C>G | XP_011514529.1:n.1553+277C>G | |
| XM_011516228.1:c.1553+277C>G | XP_011514530.1:n.1553+277C>G | |
| XM_011516229.1:c.1553+277C>G | XP_011514531.1:n.1553+277C>G | |
| XR_927464.1:n.1924+277C>G | ||
| XR_927465.1:n.1615-719C>G | ||
| XM_011516225.2:c.2051+277C>G | XP_011514527.1:n.2051+277C>G | |
| XM_011516226.2:c.1787+277C>G | XP_011514528.1:n.1787+277C>G | |
| XM_011516228.2:c.1553+277C>G | XP_011514530.1:n.1553+277C>G | |
| XM_011516229.2:c.1553+277C>G | XP_011514531.1:n.1553+277C>G | |
| XM_017012219.2:c.2051+277C>G | XP_016867708.1:n.2051+277C>G | |
| XM_017012220.2:c.1787+277C>G | XP_016867709.1:n.1787+277C>G | |
| XM_024446768.1:c.1553+277C>G | XP_024302536.1:n.1553+277C>G | |
| XM_024446769.1:c.1553+277C>G | XP_024302537.1:n.1553+277C>G | |
| XM_024446770.1:c.1553+277C>G | XP_024302538.1:n.1553+277C>G | |
| XR_001744773.2:n.2535-719C>G | ||
| XR_927464.3:n.2849+277C>G | ||
| XR_927465.3:n.2535-719C>G | ||
| NM_000665.5:c.1553+277C>G MANE Select | NP_000656.1:n.1553+277C>G | |
| NM_001282449.2:c.1289+277C>G | NP_001269378.1:n.1289+277C>G | |
| NM_001302621.2:c.1553+277C>G | NP_001289550.1:n.1553+277C>G | |
| NM_001302622.2:c.1553+277C>G | NP_001289551.1:n.1553+277C>G | |
| NM_001367915.1:c.1553+277C>G | NP_001354844.1:n.1553+277C>G | |
| NM_001367917.1:c.1553+277C>G | NP_001354846.1:n.1553+277C>G | |
| NM_001367918.1:c.1754+277C>G | NP_001354847.1:n.1754+277C>G | |
| NM_001367919.1:c.1751+277C>G | NP_001354848.1:n.1751+277C>G | |
| NR_160407.1:n.1534-719C>G | ||
| NR_160408.1:n.1176-719C>G | ||
| NM_001302621.3:c.1553+277C>G | NP_001289550.1:n.1553+277C>G | |
| NM_001367919.2:c.1751+277C>G | NP_001354848.1:n.1751+277C>G | |
| NR_160408.2:n.1176-719C>G |