Linked Data
dbSNP Id:
rs11169282
gnomAD v2:
12-50529971-A-G
gnomAD v3:
12-50136188-A-G
gnomAD v4:
12-50136188-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50136188A>G , CM000674.2:g.50136188A>G | GRCh38 |
| NC_000012.11:g.50529971A>G , CM000674.1:g.50529971A>G | GRCh37 |
| NC_000012.10:g.48816238A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317551.12:c.637-119T>C MANE Select | ENSP00000325485.6:n.637-119T>C | |
| ENST00000317551.10:c.637-119T>C | ENSP00000325485.6:n.637-119T>C | |
| ENST00000380189.8:c.579-119T>C | ENSP00000369536.4:n.579-119T>C | |
| ENST00000422340.6:c.463-119T>C | ENSP00000389050.2:n.463-119T>C | |
| ENST00000438450.6:c.531-119T>C | ENSP00000407896.2:n.531-119T>C | |
| ENST00000542320.5:c.579-119T>C | ENSP00000442918.1:n.579-119T>C | |
| ENST00000546676.1:n.67-119T>C | ||
| ENST00000547138.5:n.90-119T>C | ||
| ENST00000547787.5:c.*616-119T>C | ENSP00000447410.1:n.*616-119T>C | |
| ENST00000547800.2:c.544-119T>C | ENSP00000448295.2:n.544-119T>C | |
| ENST00000549089.1:n.444-119T>C | ||
| ENST00000550547.5:c.42-119T>C | ||
| ENST00000551005.5:n.1266-119T>C | ||
| ENST00000551697.5:c.637-119T>C | ENSP00000448794.1:n.637-119T>C | |
| NM_001281731.1:c.463-119T>C | NP_001268660.1:n.463-119T>C | |
| NM_147190.3:c.637-119T>C | NP_671723.1:n.637-119T>C | |
| NR_104035.1:n.815-119T>C | ||
| XM_005269220.1:c.637-119T>C | XP_005269277.1:n.637-119T>C | |
| XM_006719687.2:c.637-119T>C | XP_006719750.1:n.637-119T>C | |
| XM_011538975.1:c.637-119T>C | XP_011537277.1:n.637-119T>C | |
| XR_429120.1:n.653-119T>C | ||
| NM_001331069.1:c.463-119T>C | NP_001317998.1:n.463-119T>C | |
| NM_001331070.1:c.637-119T>C | NP_001317999.1:n.637-119T>C | |
| NM_001331071.1:c.637-119T>C | NP_001318000.1:n.637-119T>C | |
| NM_001331072.1:c.205-119T>C | NP_001318001.1:n.205-119T>C | |
| NM_001331073.1:c.205-119T>C | NP_001318002.1:n.205-119T>C | |
| NR_138532.1:n.815-119T>C | ||
| NR_138533.1:n.873-119T>C | ||
| NR_138534.1:n.873-119T>C | ||
| NR_138535.1:n.1035-119T>C | ||
| NR_138536.1:n.977-119T>C | ||
| XM_005269220.2:c.637-119T>C | XP_005269277.1:n.637-119T>C | |
| XM_017020204.2:c.637-119T>C | XP_016875693.1:n.637-119T>C | |
| XM_024449271.1:c.463-119T>C | XP_024305039.1:n.463-119T>C | |
| XM_024449272.1:c.61-119T>C | XP_024305040.1:n.61-119T>C | |
| XR_001748920.2:n.653-119T>C | ||
| XR_001748921.1:n.653-119T>C | ||
| XR_002957387.1:n.910-119T>C | ||
| XR_002957388.1:n.903-119T>C | ||
| XR_429120.3:n.653-119T>C | ||
| NM_001331069.2:c.463-119T>C | NP_001317998.1:n.463-119T>C | |
| NM_001331070.2:c.637-119T>C | NP_001317999.1:n.637-119T>C | |
| NM_001331071.2:c.637-119T>C | NP_001318000.1:n.637-119T>C | |
| NM_001331072.2:c.205-119T>C | NP_001318001.1:n.205-119T>C | |
| NM_001331073.2:c.205-119T>C | NP_001318002.1:n.205-119T>C | |
| NM_147190.5:c.637-119T>C MANE Select | NP_671723.1:n.637-119T>C | |
| NR_104035.2:n.651-119T>C | ||
| NR_138532.2:n.651-119T>C | ||
| NR_138533.2:n.709-119T>C | ||
| NR_138534.2:n.709-119T>C | ||
| NR_138535.2:n.871-119T>C | ||
| NR_138536.2:n.813-119T>C | ||
| NM_001281731.2:c.463-119T>C | NP_001268660.1:n.463-119T>C | |
| NM_001331069.3:c.463-119T>C | NP_001317998.1:n.463-119T>C | |
| NM_001331070.3:c.637-119T>C | NP_001317999.1:n.637-119T>C | |
| NM_001331071.3:c.637-119T>C | NP_001318000.1:n.637-119T>C | |
| NM_001331072.3:c.205-119T>C | NP_001318001.1:n.205-119T>C | |
| NM_001331073.3:c.205-119T>C | NP_001318002.1:n.205-119T>C | |
| NR_104035.3:n.651-119T>C | ||
| NR_138532.3:n.651-119T>C | ||
| NR_138533.3:n.709-119T>C | ||
| NR_138534.3:n.709-119T>C | ||
| NR_138535.3:n.871-119T>C | ||
| NR_138536.3:n.813-119T>C |