Linked Data
dbSNP Id:
rs12155400
gnomAD v2:
7-18428921-A-G
gnomAD v3:
7-18389298-A-G
gnomAD v4:
7-18389298-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.18389298A>G , CM000669.2:g.18389298A>G | GRCh38 |
| NC_000007.13:g.18428921A>G , CM000669.1:g.18428921A>G | GRCh37 |
| NC_000007.12:g.18395446A>G | NCBI36 |
| NG_023250.2:g.307350A>G | |
| NG_023250.3:g.307350A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707077.1:c.26-106964A>G | ENSP00000516728.1:n.26-106964A>G | |
| ENST00000413509.6:c.-42+98783A>G | ENSP00000412497.2:n.-42+98783A>G | |
| ENST00000417496.6:c.26-69544A>G | ENSP00000401669.2:n.26-69544A>G | |
| ENST00000433709.6:c.-110-5817A>G | ENSP00000409003.2:n.-110-5817A>G | |
| ENST00000461159.6:n.94+98783A>G | ||
| ENST00000474742.1:n.66+98783A>G | ||
| NM_001204144.1:c.26-69544A>G | NP_001191073.1:n.26-69544A>G | |
| XM_011515626.1:c.100+98783A>G | XP_011513928.1:n.100+98783A>G | |
| XM_011515627.1:c.16+98783A>G | XP_011513929.1:n.16+98783A>G | |
| XM_011515628.1:c.16+98783A>G | XP_011513930.1:n.16+98783A>G | |
| XM_011515629.1:c.16+98783A>G | XP_011513931.1:n.16+98783A>G | |
| XM_011515630.1:c.16+98783A>G | XP_011513932.1:n.16+98783A>G | |
| XM_011515631.1:c.26-106964A>G | XP_011513933.1:n.26-106964A>G | |
| XM_011515632.1:c.16+98783A>G | XP_011513934.1:n.16+98783A>G | |
| XM_011515633.1:c.16+98783A>G | XP_011513935.1:n.16+98783A>G | |
| XM_011515634.1:c.16+98783A>G | XP_011513936.1:n.16+98783A>G | |
| XM_011515647.1:c.16+98783A>G | XP_011513949.1:n.16+98783A>G | |
| XM_011515650.1:c.16+98783A>G | XP_011513952.1:n.16+98783A>G | |
| XM_011515651.1:c.16+98783A>G | XP_011513953.1:n.16+98783A>G | |
| XR_926952.1:n.75+98783A>G | ||
| NM_001204144.2:c.26-69544A>G | NP_001191073.1:n.26-69544A>G | |
| NM_001321868.1:c.26-106964A>G | NP_001308797.1:n.26-106964A>G | |
| NM_001321869.1:c.26-106964A>G | NP_001308798.1:n.26-106964A>G | |
| NM_001321870.1:c.26-106964A>G | NP_001308799.1:n.26-106964A>G | |
| NM_001321871.1:c.26-106964A>G | NP_001308800.1:n.26-106964A>G | |
| NM_001321872.1:c.26-106964A>G | NP_001308801.1:n.26-106964A>G | |
| NM_001321873.1:c.26-106964A>G | NP_001308802.1:n.26-106964A>G | |
| NM_001321896.1:c.-194+98783A>G | NP_001308825.1:n.-194+98783A>G | |
| NM_001204144.3:c.26-69544A>G | NP_001191073.1:n.26-69544A>G | |
| NM_001321868.2:c.26-106964A>G | NP_001308797.1:n.26-106964A>G | |
| NM_001321869.2:c.26-106964A>G | NP_001308798.1:n.26-106964A>G | |
| NM_001321870.2:c.26-106964A>G | NP_001308799.1:n.26-106964A>G | |
| NM_001321871.2:c.26-106964A>G | NP_001308800.1:n.26-106964A>G | |
| NM_001321872.2:c.26-106964A>G | NP_001308801.1:n.26-106964A>G | |
| NM_001321873.2:c.26-106964A>G | NP_001308802.1:n.26-106964A>G | |
| NM_001321896.2:c.-194+98783A>G | NP_001308825.1:n.-194+98783A>G |