Linked Data
dbSNP Id:
rs751256346
ExAC:
4:187205459 T / G
gnomAD v2:
4-187205459-T-G
gnomAD v4:
4-186284305-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284305T>G , CM000666.2:g.186284305T>G | GRCh38 |
| NC_000004.11:g.187205459T>G , CM000666.1:g.187205459T>G | GRCh37 |
| NC_000004.10:g.187442453T>G | NCBI36 |
| NG_008051.1:g.23342T>G , LRG_583:g.23342T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1304+45T>G MANE Select | ENSP00000384957.2:n.1304+45T>G | |
| ENST00000264692.8:c.1142+45T>G | ENSP00000264692.5:n.1142+45T>G | |
| ENST00000403665.6:c.1304+45T>G | ENSP00000384957.2:n.1304+45T>G | |
| NM_000128.3:c.1304+45T>G , LRG_583t1:c.1304+45T>G | NP_000119.1:n.1304+45T>G | |
| XM_005262821.2:c.1307+45T>G | XP_005262878.1:n.1307+45T>G | |
| XM_005262822.2:c.1307+45T>G | XP_005262879.1:n.1307+45T>G | |
| XM_005262823.2:c.1037+45T>G | XP_005262880.1:n.1037+45T>G | |
| XM_005262824.1:c.1307+45T>G | XP_005262881.1:n.1307+45T>G | |
| XM_006714137.1:c.1259+45T>G | XP_006714200.1:n.1259+45T>G | |
| XR_938706.1:n.1712+45T>G | ||
| XR_938707.1:n.1712+45T>G | ||
| XM_005262821.4:c.1307+45T>G | XP_005262878.1:n.1307+45T>G | |
| XM_005262822.4:c.1307+45T>G | XP_005262879.1:n.1307+45T>G | |
| XM_005262823.4:c.1037+45T>G | XP_005262880.1:n.1037+45T>G | |
| XM_006714137.3:c.1259+45T>G | XP_006714200.1:n.1259+45T>G | |
| XR_001741172.2:n.1778+45T>G | ||
| NM_000128.4:c.1304+45T>G MANE Select | NP_000119.1:n.1304+45T>G |