Linked Data
ClinVar Variation Id:
307746
ClinVar RCV Id:
RCV000655346
dbSNP Id:
rs751592819
ExAC:
12:13722959 G / A
gnomAD v2:
12-13722959-G-A
gnomAD v3:
12-13570025-G-A
gnomAD v4:
12-13570025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13570025G>A , CM000674.2:g.13570025G>A | GRCh38 |
| NC_000012.11:g.13722959G>A , CM000674.1:g.13722959G>A | GRCh37 |
| NC_000012.10:g.13614226G>A | NCBI36 |
| NG_031854.1:g.415064C>T | |
| NG_031854.2:g.416988C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.2172-8C>T MANE Select | ENSP00000477455.1:n.2172-8C>T | |
| ENST00000628166.2:n.432-8C>T | ||
| ENST00000637214.1:c.69+38578C>T | ENSP00000489997.1:n.69+38578C>T | |
| ENST00000609686.3:c.2172-8C>T | ENSP00000477455.1:n.2172-8C>T | |
| ENST00000628166.1:n.432-8C>T | ||
| NM_000834.3:c.2172-8C>T | NP_000825.2:n.2172-8C>T | |
| XM_005253351.2:c.-43-8C>T | XP_005253408.1:n.-43-8C>T | |
| XM_011520628.1:c.2172-8C>T | XP_011518930.1:n.2172-8C>T | |
| XM_011520629.1:c.2172-8C>T | XP_011518931.1:n.2172-8C>T | |
| XM_011520630.1:c.2172-8C>T | XP_011518932.1:n.2172-8C>T | |
| NM_000834.4:c.2172-8C>T | NP_000825.2:n.2172-8C>T | |
| XM_005253351.3:c.-43-8C>T | XP_005253408.1:n.-43-8C>T | |
| XM_011520628.2:c.2172-8C>T | XP_011518930.1:n.2172-8C>T | |
| XM_011520629.2:c.2172-8C>T | XP_011518931.1:n.2172-8C>T | |
| XM_017019219.2:c.2172-8C>T | XP_016874708.1:n.2172-8C>T | |
| NM_000834.5:c.2172-8C>T MANE Select | NP_000825.2:n.2172-8C>T |