Linked Data
dbSNP Id:
rs1268973885
gnomAD v2:
4-187201333-A-T
gnomAD v3:
4-186280179-A-T
gnomAD v4:
4-186280179-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280179A>T , CM000666.2:g.186280179A>T | GRCh38 |
| NC_000004.11:g.187201333A>T , CM000666.1:g.187201333A>T | GRCh37 |
| NC_000004.10:g.187438327A>T | NCBI36 |
| NG_008051.1:g.19216A>T , LRG_583:g.19216A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.866-44A>T MANE Select | ENSP00000384957.2:n.866-44A>T | |
| ENST00000264692.8:c.704-44A>T | ENSP00000264692.5:n.704-44A>T | |
| ENST00000403665.6:c.866-44A>T | ENSP00000384957.2:n.866-44A>T | |
| ENST00000452239.1:c.313-44A>T | ||
| NM_000128.3:c.866-44A>T , LRG_583t1:c.866-44A>T | NP_000119.1:n.866-44A>T | |
| XM_005262821.2:c.866-44A>T | XP_005262878.1:n.866-44A>T | |
| XM_005262822.2:c.866-44A>T | XP_005262879.1:n.866-44A>T | |
| XM_005262823.2:c.596-44A>T | XP_005262880.1:n.596-44A>T | |
| XM_005262824.1:c.866-44A>T | XP_005262881.1:n.866-44A>T | |
| XM_006714137.1:c.865+58A>T | XP_006714200.1:n.865+58A>T | |
| XR_938706.1:n.1218-44A>T | ||
| XR_938707.1:n.1218-44A>T | ||
| XM_005262821.4:c.866-44A>T | XP_005262878.1:n.866-44A>T | |
| XM_005262822.4:c.866-44A>T | XP_005262879.1:n.866-44A>T | |
| XM_005262823.4:c.596-44A>T | XP_005262880.1:n.596-44A>T | |
| XM_006714137.3:c.865+58A>T | XP_006714200.1:n.865+58A>T | |
| XM_017007884.2:c.866-44A>T | XP_016863373.1:n.866-44A>T | |
| XM_017007885.2:c.866-44A>T | XP_016863374.1:n.866-44A>T | |
| XM_017007886.2:c.866-44A>T | XP_016863375.1:n.866-44A>T | |
| XR_001741172.2:n.1199-44A>T | ||
| NM_000128.4:c.866-44A>T MANE Select | NP_000119.1:n.866-44A>T |