Linked Data
dbSNP Id:
rs1461567
gnomAD v2:
12-44164689-G-A
gnomAD v3:
12-43770886-G-A
gnomAD v4:
12-43770886-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.43770886G>A , CM000674.2:g.43770886G>A | GRCh38 |
| NC_000012.11:g.44164689G>A , CM000674.1:g.44164689G>A | GRCh37 |
| NC_000012.10:g.42450956G>A | NCBI36 |
| NG_009892.1:g.16943G>A , LRG_75:g.16943G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696790.1:c.162-1294G>A | ENSP00000512872.1:n.162-1294G>A | |
| ENST00000696791.1:c.162-152G>A | ENSP00000512873.1:n.162-152G>A | |
| ENST00000696794.1:n.1141-334G>A | ||
| ENST00000696795.1:c.162-1294G>A | ENSP00000512876.1:n.162-1294G>A | |
| ENST00000696796.1:c.162-161G>A | ENSP00000512877.1:n.162-161G>A | |
| ENST00000613694.5:c.162-334G>A MANE Select | ENSP00000479889.3:n.162-334G>A | |
| ENST00000431837.5:c.-65-1294G>A | ENSP00000390327.1:n.-65-1294G>A | |
| ENST00000440781.6:c.-65-1294G>A | ENSP00000408734.2:n.-65-1294G>A | |
| ENST00000448290.6:c.162-334G>A | ENSP00000390651.3:n.162-334G>A | |
| ENST00000547101.5:c.162-152G>A | ENSP00000449317.1:n.162-152G>A | |
| ENST00000547521.5:c.162-1294G>A | ENSP00000449693.1:n.162-1294G>A | |
| ENST00000550361.1:c.162-1294G>A | ENSP00000449859.1:n.162-1294G>A | |
| ENST00000550386.5:c.162-152G>A | ENSP00000449848.1:n.162-152G>A | |
| ENST00000550615.5:c.162-1294G>A | ENSP00000449553.1:n.162-1294G>A | |
| ENST00000550616.5:c.162-334G>A | ENSP00000446571.1:n.162-334G>A | |
| ENST00000551736.5:c.162-334G>A | ENSP00000446490.1:n.162-334G>A | |
| ENST00000552309.5:c.162-1294G>A | ENSP00000448197.1:n.162-1294G>A | |
| ENST00000613694.4:c.162-334G>A | ENSP00000479889.2:n.162-334G>A | |
| NM_001114182.2:c.162-334G>A | NP_001107654.1:n.162-334G>A | |
| NM_001145256.1:c.-65-1294G>A | NP_001138728.1:n.-65-1294G>A | |
| NM_001145257.1:c.-65-1294G>A | NP_001138729.1:n.-65-1294G>A | |
| NM_001145258.1:c.-65-1294G>A | NP_001138730.1:n.-65-1294G>A | |
| NM_016123.3:c.162-334G>A , LRG_75t1:c.162-334G>A | NP_057207.2:n.162-334G>A | |
| XM_005268943.3:c.162-334G>A | XP_005269000.1:n.162-334G>A | |
| XM_005268944.3:c.162-334G>A | XP_005269001.1:n.162-334G>A | |
| XM_005268945.3:c.162-334G>A | XP_005269002.1:n.162-334G>A | |
| XM_005268946.3:c.162-334G>A | XP_005269003.1:n.162-334G>A | |
| XM_005268947.3:c.-278-152G>A | XP_005269004.1:n.-278-152G>A | |
| XM_005268948.2:c.-278-152G>A | XP_005269005.1:n.-278-152G>A | |
| XM_005268949.2:c.-65-1294G>A | XP_005269006.1:n.-65-1294G>A | |
| XM_006719438.2:c.162-334G>A | XP_006719501.1:n.162-334G>A | |
| XM_006719439.2:c.-65-1294G>A | XP_006719502.1:n.-65-1294G>A | |
| XM_006719440.1:c.-362-334G>A | XP_006719503.1:n.-362-334G>A | |
| XM_006719441.1:c.-216-1294G>A | XP_006719504.1:n.-216-1294G>A | |
| XM_006719442.1:c.-216-1294G>A | XP_006719505.1:n.-216-1294G>A | |
| XM_006719443.2:c.-216-1294G>A | XP_006719506.1:n.-216-1294G>A | |
| XM_011538431.1:c.162-334G>A | XP_011536733.1:n.162-334G>A | |
| XM_011538432.1:c.162-334G>A | XP_011536734.1:n.162-334G>A | |
| XM_011538433.1:c.162-334G>A | XP_011536735.1:n.162-334G>A | |
| NM_001351338.1:c.-65-1294G>A | NP_001338267.1:n.-65-1294G>A | |
| NM_001351339.1:c.-278-152G>A | NP_001338268.1:n.-278-152G>A | |
| NM_001351340.1:c.-278-152G>A | NP_001338269.1:n.-278-152G>A | |
| NM_001351341.1:c.-278-152G>A | NP_001338270.1:n.-278-152G>A | |
| NM_001351342.1:c.-278-152G>A | NP_001338271.1:n.-278-152G>A | |
| NM_001351343.1:c.-216-1294G>A | NP_001338272.1:n.-216-1294G>A | |
| NM_001351344.1:c.-216-1294G>A | NP_001338273.1:n.-216-1294G>A | |
| NM_001351345.1:c.162-334G>A | NP_001338274.1:n.162-334G>A | |
| XM_005268944.4:c.162-334G>A | XP_005269001.1:n.162-334G>A | |
| XM_005268945.4:c.162-334G>A | XP_005269002.1:n.162-334G>A | |
| XM_006719438.3:c.162-334G>A | XP_006719501.1:n.162-334G>A | |
| XM_006719440.2:c.-362-334G>A | XP_006719503.1:n.-362-334G>A | |
| XM_006719442.2:c.-216-1294G>A | XP_006719505.1:n.-216-1294G>A | |
| XM_011538431.2:c.162-334G>A | XP_011536733.1:n.162-334G>A | |
| XM_011538433.2:c.162-334G>A | XP_011536735.1:n.162-334G>A | |
| XM_017019390.2:c.162-334G>A | XP_016874879.1:n.162-334G>A | |
| XM_024449008.1:c.162-334G>A | XP_024304776.1:n.162-334G>A | |
| NM_016123.4:c.162-334G>A MANE Select | NP_057207.2:n.162-334G>A | |
| NM_001114182.3:c.162-334G>A | NP_001107654.1:n.162-334G>A | |
| NM_001145256.2:c.-65-1294G>A | NP_001138728.1:n.-65-1294G>A | |
| NM_001145257.2:c.-65-1294G>A | NP_001138729.1:n.-65-1294G>A | |
| NM_001145258.2:c.-65-1294G>A | NP_001138730.1:n.-65-1294G>A | |
| NM_001351338.2:c.-65-1294G>A | NP_001338267.1:n.-65-1294G>A | |
| NM_001351339.2:c.-278-152G>A | NP_001338268.1:n.-278-152G>A | |
| NM_001351340.2:c.-278-152G>A | NP_001338269.1:n.-278-152G>A | |
| NM_001351341.2:c.-278-152G>A | NP_001338270.1:n.-278-152G>A | |
| NM_001351342.2:c.-278-152G>A | NP_001338271.1:n.-278-152G>A | |
| NM_001351343.2:c.-216-1294G>A | NP_001338272.1:n.-216-1294G>A | |
| NM_001351344.2:c.-216-1294G>A | NP_001338273.1:n.-216-1294G>A | |
| NM_001351345.2:c.162-334G>A | NP_001338274.1:n.162-334G>A |