Linked Data
dbSNP Id:
rs2072115
gnomAD v2:
12-48145368-A-G
gnomAD v3:
12-47751585-A-G
gnomAD v4:
12-47751585-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47751585A>G , CM000674.2:g.47751585A>G | GRCh38 |
| NC_000012.11:g.48145368A>G , CM000674.1:g.48145368A>G | GRCh37 |
| NC_000012.10:g.46431635A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449771.7:c.381-65T>C MANE Select | ENSP00000395708.2:n.381-65T>C | |
| ENST00000389212.7:c.381-65T>C | ENSP00000373864.3:n.381-65T>C | |
| ENST00000395358.7:c.381-65T>C | ENSP00000378764.3:n.381-65T>C | |
| ENST00000405493.6:c.255-65T>C | ENSP00000384521.2:n.255-65T>C | |
| ENST00000449771.6:c.381-65T>C | ENSP00000395708.2:n.381-65T>C | |
| ENST00000466322.5:c.255-65T>C | ENSP00000446731.1:n.255-65T>C | |
| ENST00000479866.5:n.663-65T>C | ||
| ENST00000482843.5:n.599-65T>C | ||
| ENST00000495953.2:c.255-65T>C | ENSP00000448804.1:n.255-65T>C | |
| ENST00000547856.5:c.220-1160T>C | ENSP00000449905.1:n.220-1160T>C | |
| ENST00000548919.5:c.255-65T>C | ENSP00000448480.1:n.255-65T>C | |
| ENST00000549151.5:c.255-65T>C | ENSP00000448619.1:n.255-65T>C | |
| NM_001098531.2:c.381-65T>C | NP_001092001.1:n.381-65T>C | |
| NM_001098532.2:c.255-65T>C | NP_001092002.1:n.255-65T>C | |
| NM_006105.5:c.255-65T>C | NP_006096.2:n.255-65T>C | |
| XM_011537751.1:c.417-65T>C | XP_011536053.1:n.417-65T>C | |
| XM_011537752.1:c.381-65T>C | XP_011536054.1:n.381-65T>C | |
| XM_011537753.1:c.417-65T>C | XP_011536055.1:n.417-65T>C | |
| XM_011537754.1:c.417-65T>C | XP_011536056.1:n.417-65T>C | |
| XM_011537755.1:c.255-65T>C | XP_011536057.1:n.255-65T>C | |
| XM_011537756.1:c.417-65T>C | XP_011536058.1:n.417-65T>C | |
| XM_011537757.1:c.417-65T>C | XP_011536059.1:n.417-65T>C | |
| XM_011537759.1:c.417-65T>C | XP_011536061.1:n.417-65T>C | |
| XR_944480.1:n.554-65T>C | ||
| XM_005268571.3:c.-870-65T>C | XP_005268628.1:n.-870-65T>C | |
| XM_011537752.2:c.381-65T>C | XP_011536054.1:n.381-65T>C | |
| XM_011537758.2:c.-29-65T>C | XP_011536060.1:n.-29-65T>C | |
| XM_017018688.2:c.381-65T>C | XP_016874177.1:n.381-65T>C | |
| XM_024448795.1:c.-1581-65T>C | XP_024304563.1:n.-1581-65T>C | |
| XR_001748550.2:n.705-65T>C | ||
| XR_001748551.2:n.705-65T>C | ||
| XR_002957282.1:n.583-65T>C | ||
| NM_001098531.3:c.381-65T>C | NP_001092001.1:n.381-65T>C | |
| NM_001098531.4:c.381-65T>C MANE Select | NP_001092001.2:n.381-65T>C |