Linked Data
dbSNP Id:
rs11178391
gnomAD v2:
12-71145532-C-T
gnomAD v3:
12-70751752-C-T
gnomAD v4:
12-70751752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70751752C>T , CM000674.2:g.70751752C>T | GRCh38 |
| NC_000012.11:g.71145532C>T , CM000674.1:g.71145532C>T | GRCh37 |
| NC_000012.10:g.69431799C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283228.7:c.738+2439G>A MANE Select | ENSP00000283228.2:n.738+2439G>A | |
| ENST00000283228.6:c.738+2439G>A | ENSP00000283228.2:n.738+2439G>A | |
| ENST00000342084.8:c.402+2439G>A | ENSP00000339605.4:n.402+2439G>A | |
| ENST00000378778.5:c.120+2439G>A | ENSP00000368054.1:n.120+2439G>A | |
| ENST00000440835.6:c.3+2439G>A | ENSP00000391750.2:n.3+2439G>A | |
| ENST00000548220.1:n.286+2439G>A | ||
| ENST00000549308.5:c.3+2439G>A | ENSP00000446943.1:n.3+2439G>A | |
| ENST00000550661.1:c.3+2439G>A | ENSP00000449616.1:n.3+2439G>A | |
| ENST00000551219.5:c.-279+2439G>A | ENSP00000448049.1:n.-279+2439G>A | |
| NM_001207015.1:c.402+2439G>A | NP_001193944.1:n.402+2439G>A | |
| NM_001207016.1:c.120+2439G>A | NP_001193945.1:n.120+2439G>A | |
| NM_002849.3:c.738+2439G>A | NP_002840.2:n.738+2439G>A | |
| NM_130846.2:c.3+2439G>A | NP_570897.2:n.3+2439G>A | |
| NR_073474.1:n.418+2439G>A | ||
| XM_011538615.1:c.714+2439G>A | XP_011536917.1:n.714+2439G>A | |
| XM_011538616.1:c.738+2439G>A | XP_011536918.1:n.738+2439G>A | |
| XR_944652.1:n.1126+2439G>A | ||
| XR_945079.1:n.485-21685C>T | ||
| XM_011538615.2:c.714+2439G>A | XP_011536917.1:n.714+2439G>A | |
| XR_001748830.1:n.1080+2439G>A | ||
| XR_001748831.2:n.521+2439G>A | ||
| NM_002849.4:c.738+2439G>A MANE Select | NP_002840.2:n.738+2439G>A | |
| NM_001207015.2:c.402+2439G>A | NP_001193944.1:n.402+2439G>A | |
| NM_130846.3:c.3+2439G>A | NP_570897.2:n.3+2439G>A | |
| NR_073474.2:n.418+2439G>A |