Linked Data
dbSNP Id:
rs1445077466
gnomAD v2:
4-187201582-G-T
gnomAD v4:
4-186280428-G-T
COSMIC:
COSN26548715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280428G>T , CM000666.2:g.186280428G>T | GRCh38 |
| NC_000004.11:g.187201582G>T , CM000666.1:g.187201582G>T | GRCh37 |
| NC_000004.10:g.187438576G>T | NCBI36 |
| NG_008051.1:g.19465G>T , LRG_583:g.19465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1028+43G>T MANE Select | ENSP00000384957.2:n.1028+43G>T | |
| ENST00000264692.8:c.866+43G>T | ENSP00000264692.5:n.866+43G>T | |
| ENST00000403665.6:c.1028+43G>T | ENSP00000384957.2:n.1028+43G>T | |
| ENST00000452239.1:c.475+43G>T | ||
| NM_000128.3:c.1028+43G>T , LRG_583t1:c.1028+43G>T | NP_000119.1:n.1028+43G>T | |
| XM_005262821.2:c.1029-43G>T | XP_005262878.1:n.1029-43G>T | |
| XM_005262822.2:c.1029-43G>T | XP_005262879.1:n.1029-43G>T | |
| XM_005262823.2:c.759-43G>T | XP_005262880.1:n.759-43G>T | |
| XM_005262824.1:c.1029-43G>T | XP_005262881.1:n.1029-43G>T | |
| XM_006714137.1:c.981-43G>T | XP_006714200.1:n.981-43G>T | |
| XR_938706.1:n.1381-43G>T | ||
| XR_938707.1:n.1381-43G>T | ||
| XM_005262821.4:c.1029-43G>T | XP_005262878.1:n.1029-43G>T | |
| XM_005262822.4:c.1029-43G>T | XP_005262879.1:n.1029-43G>T | |
| XM_005262823.4:c.759-43G>T | XP_005262880.1:n.759-43G>T | |
| XM_006714137.3:c.981-43G>T | XP_006714200.1:n.981-43G>T | |
| XM_017007884.2:c.1029-43G>T | XP_016863373.1:n.1029-43G>T | |
| XM_017007885.2:c.1029-43G>T | XP_016863374.1:n.1029-43G>T | |
| XM_017007886.2:c.1028+43G>T | XP_016863375.1:n.1028+43G>T | |
| XR_001741172.2:n.1404G>T | ||
| NM_000128.4:c.1028+43G>T MANE Select | NP_000119.1:n.1028+43G>T |